V43G (p.Val43Gly) variant of GJB2 (Gap junction beta-2 protein)
V43G (p.Val43Gly) 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.
V43G (p.Val43Gly) variant details
- p.Val43Gly
- ExAC rs776267945
- TOPMed rs776267945
- gnomAD rs776267945
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- MetaLR 0.99
- MetaSVM 1.02
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available