W24C (p.Trp24Cys) variant of GJB2 (Gap junction beta-2 protein)
W24C (p.Trp24Cys) 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 record also includes variant effect predictions and structural context.
W24C (p.Trp24Cys) variant details
- p.Trp24Cys
- ExAC rs769486081
- TOPMed rs769486081
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available