G130V (p.Gly130Val) variant of GJB2 (Gap junction beta-2 protein)
G130V (p.Gly130Val) 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 Inborn genetic diseases; Nonsyndromic genetic hearing loss; not provided. The record also includes variant effect predictions, published literature, and structural context.
G130V (p.Gly130Val) variant details
- p.Gly130Val
- UniProt VAR 069522
- Pathogenic
- Inborn genetic diseases; Nonsyndromic genetic hearing loss; not provided
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.01
- ClinVar: Pathogenic (Inborn genetic diseases; Nonsyndromic genetic hearing loss; not)
- EBI: Pathogenic (in VOWNKL)
- UniProt: Pathogenic (in VOWNKL)
- Structural context available
- Cited in: Mutation analysis of the GJB2 (connexin 26) gene in Egypt. (PMID 15954104)
- Cited in: New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar… (PMID 18688874)