PRR14L

proline rich 14 like

Basic information

Region (hg38): 22:31676255-31750140

Previous symbols: [ "C22orf30" ]

Links

ENSG00000183530 ∙ NCBI:253143 ∙ ∙ HGNC:28738 ∙ Uniprot:Q5THK1 ∙ 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 PRR14L gene.

• Inborn genetic diseases (106 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR14L 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				1	1	2
missense			101	5	4	110
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	101	6	5

Variants in PRR14L

This is a list of pathogenic ClinVar variants found in the PRR14L region.

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

Position	Type	Phenotype	Significance	ClinVar
22-31685664-C-G		not specified	Uncertain significance (Jan 08, 2024)
22-31685698-G-A			Benign (Jan 08, 2018)
22-31701677-A-G		not specified	Uncertain significance (Mar 08, 2024)
22-31703600-C-T		not specified	Uncertain significance (Jun 06, 2023)
22-31703608-A-C		not specified	Uncertain significance (Aug 08, 2023)
22-31703612-C-T		not specified	Uncertain significance (Jun 21, 2022)
22-31703624-G-A		not specified	Uncertain significance (Feb 28, 2024)
22-31703627-C-T		not specified	Uncertain significance (Sep 16, 2021)
22-31703698-A-C		not specified	Uncertain significance (Dec 13, 2022)
22-31704692-T-C		not specified	Uncertain significance (Sep 27, 2022)
22-31704719-T-C		not specified	Uncertain significance (Jul 11, 2023)
22-31712104-G-T		not specified	Uncertain significance (Aug 17, 2022)
22-31712111-G-A		not specified	Uncertain significance (Sep 01, 2021)
22-31712233-A-G		not specified	Uncertain significance (Oct 05, 2021)
22-31712248-C-T		not specified	Uncertain significance (Jul 14, 2021)
22-31712249-G-A		not specified	Uncertain significance (May 05, 2023)
22-31712300-T-C		not specified	Uncertain significance (Mar 29, 2022)
22-31712311-C-T		not specified	Uncertain significance (Nov 08, 2022)
22-31712359-C-T			Benign (Jan 08, 2018)
22-31712528-C-T		not specified	Uncertain significance (Jul 14, 2021)
22-31712593-A-G		not specified	Uncertain significance (Jan 31, 2023)
22-31712722-T-C		not specified	Uncertain significance (May 27, 2022)
22-31712753-T-C		not specified	Uncertain significance (Dec 03, 2021)
22-31712779-G-T		not specified	Uncertain significance (Aug 15, 2023)
22-31712852-A-G			Benign (Jan 08, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR14L	protein_coding	protein_coding	ENST00000327423	8	73885

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00295	125741	0	4	125745	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.47	866	1.10e+3	0.790	0.0000542	14188
Missense in Polyphen		181	256.01	0.70701		3506
Synonymous	3.22	326	409	0.798	0.0000211	4163
Loss of Function	6.25	11	65.6	0.168	0.00000354	939

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 3.8
• rvis_percentile_EVS: 99.62

Haploinsufficiency Scores

• pHI: 0.0643
• hipred: Y
• hipred_score: 0.546
• ghis: 0.426

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prr14l