W44C (p.Trp44Cys) variant of GJB2 (Gap junction beta-2 protein)
W44C (p.Trp44Cys) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
W44C (p.Trp44Cys) variant details
- p.Trp44Cys
- rs104894407
- ClinGen CA257679
- ClinVar RCV000018545
- UniProt VAR 008709
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Population evidence available
- Structural context available
- Cited in: W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. (PMID 11298683)
- Cited in: A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. (PMID 20854437)