CFAP210

cilia and flagella associated protein 210

Basic information

Region (hg38): 2:169645425-169694405

Previous symbols: [ "C2orf77", "CCDC173" ]

Links

ENSG00000154479 ∙ NCBI:129881 ∙ ∙ HGNC:25064 ∙ Uniprot:Q0VFZ6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP210 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP210 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			34			34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	0	0

Variants in CFAP210

This is a list of pathogenic ClinVar variants found in the CFAP210 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-169645896-T-A		not specified	Uncertain significance (Dec 08, 2023)
2-169645897-G-C		not specified	Uncertain significance (Apr 19, 2023)
2-169646022-A-G		not specified	Uncertain significance (Nov 09, 2023)
2-169646053-A-C		not specified	Uncertain significance (Jan 24, 2023)
2-169646083-C-T		not specified	Uncertain significance (Oct 04, 2022)
2-169646116-C-T		not specified	Uncertain significance (May 31, 2023)
2-169646163-G-T		not specified	Uncertain significance (Feb 02, 2023)
2-169649222-T-G		not specified	Uncertain significance (Apr 25, 2022)
2-169649268-G-C		not specified	Uncertain significance (Sep 22, 2022)
2-169649285-G-A		not specified	Uncertain significance (Jun 29, 2023)
2-169649310-T-C		not specified	Uncertain significance (Jan 03, 2024)
2-169649334-C-T		not specified	Uncertain significance (Jun 06, 2023)
2-169650366-G-C		not specified	Uncertain significance (Aug 12, 2021)
2-169650435-G-C		not specified	Uncertain significance (Mar 16, 2022)
2-169650468-T-C		not specified	Uncertain significance (Apr 29, 2022)
2-169650476-T-G		not specified	Uncertain significance (Feb 23, 2023)
2-169650492-T-C		not specified	Uncertain significance (Oct 26, 2022)
2-169650517-T-A		not specified	Uncertain significance (Sep 14, 2021)
2-169654174-T-C		not specified	Uncertain significance (Feb 17, 2022)
2-169654211-G-A		not specified	Uncertain significance (Feb 28, 2024)
2-169662288-G-A		not specified	Uncertain significance (Jan 31, 2022)
2-169662318-T-C		not specified	Uncertain significance (Dec 02, 2021)
2-169662423-C-T		not specified	Uncertain significance (Jan 26, 2022)
2-169674606-C-T		not specified	Uncertain significance (May 31, 2023)
2-169674652-C-T		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP210	protein_coding	protein_coding	ENST00000447353	9	49009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.42e-15	0.0752	124504	1	131	124636	0.000530

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.243	249	260	0.958	0.0000127	3664
Missense in Polyphen		52	54.171	0.95992		817
Synonymous	0.386	76	80.4	0.945	0.00000368	885
Loss of Function	0.790	25	29.6	0.843	0.00000173	394

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00172	0.00170
Ashkenazi Jewish	0.00134	0.00129
East Asian	0.000748	0.000723
Finnish	0.0000935	0.0000928
European (Non-Finnish)	0.000370	0.000363
Middle Eastern	0.000748	0.000723
South Asian	0.000489	0.000458
Other	0.00101	0.000992

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.74

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.395

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ccdc173