W172C (p.Trp172Cys) variant of GJB2 (Gap junction beta-2 protein)
W172C (p.Trp172Cys) 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 Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
W172C (p.Trp172Cys) variant details
- p.Trp172Cys
- rs1302739538
- ClinGen CA387460990
- ClinVar RCV000721943
- ClinVar RCV001004778
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.90
- MetaLR 0.90
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.19
- EVE 0.82
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)