R32C (p.Arg32Cys) variant of GJB2 (Gap junction beta-2 protein)
R32C (p.Arg32Cys) 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; Monogenic hearing loss; Palmoplantar keratoderma-deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs371024165
- ClinGen CA273921
- cosmic curated COSV67010
- ClinVar RCV000169075
- Pathogenic
- Rare genetic deafness; Monogenic hearing loss; Palmoplantar keratoderma-deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Rare genetic deafness; Monogenic hearing loss; Palmoplantar kera)
- EBI: Pathogenic (in dbSNP:rs111033190)
- UniProt: Pathogenic (in dbSNP:rs111033190)
- Most common in the African/African-American population (allele frequency 0.00053)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)