C169Y (p.Cys169Tyr) variant of GJB2 (Gap junction beta-2 protein)
C169Y (p.Cys169Tyr) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C169Y (p.Cys169Tyr) variant details
- p.Cys169Tyr
- rs774518779
- ClinGen CA6904251
- ClinVar RCV000256090
- ClinVar RCV000587164
- Pathogenic
- Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 0.98
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystr)
- EBI: Pathogenic (in dbSNP:rs774518779)
- UniProt: Pathogenic (in dbSNP:rs774518779)
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)