CFAP210

protein-coding

cilia and flagella associated protein 210

Gene summary

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C2orf77
CCDC173

MANE transcript

NM_001085447.2

Inheritance

—

ClinVar variants

U:75B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chr2:169,645,425-169,694,405

External References & Databases

Ensembl (ENSG00000154479)

Transcript & Mutation Effects

hg38 • Region Span ~49.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CFAP210 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 75

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001085447.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			75 clinvar	1 clinvar		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	2	0	77

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001085447.2	RefSeq	NP_001078916.1	9	MANE Select
ENST00000447353.6	Ensembl	ENSP00000391504.1	9	MANE Select
ENST00000419478.1	Ensembl	ENSP00000408143.1	3	Standard
ENST00000421028.1	Ensembl	ENSP00000405608.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000447353
Coding exons: 9
Length: 49009
Individuals with no LoFs: 124504
Homozygous LoFs: 1
Heterozygous LoFs: 131
Defined: 124636
p: 0.000530

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.243	249	260	0.958	0.0000127	3664
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00072	0.00071	rare
Latino/Admixed American	0.00099	0.00093	rare
Ashkenazi Jewish	0.0013	0.0013	notable
East Asian	0.00075	0.00072	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00037	0.00036	rare
South Asian	0.00049	0.00046	rare
Other	0.0010	0.00099	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.86
RVIS percentile EVS: 88.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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