R127C (p.Arg127Cys) variant of GJB2 (Gap junction beta-2 protein)
R127C (p.Arg127Cys) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Autosomal dominant keratitis-ichthyosis-hearing loss synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R127C (p.Arg127Cys) variant details
- p.Arg127Cys
- rs727503066
- ClinGen CA176158
- NCI-TCGA Cosmic COSV6701
- cosmic curated COSV67010
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Autosomal dominant keratitis-ichthyosis-hearing loss synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.78
- AlphaMissense 0.18
- MetaLR 0.88
- MetaSVM 0.90
- CADD 29.40
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Autosomal dominant keratitis-ichthyosis-h)
- EBI: Pathogenic (in dbSNP:rs111033196)
- UniProt: Pathogenic (in dbSNP:rs111033196)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)