A40G (p.Ala40Gly) variant of GJB2 (Gap junction beta-2 protein)
A40G (p.Ala40Gly) 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 Rare genetic deafness; Nonsyndromic genetic hearing loss; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- rs111033296
- ClinGen CA274135
- ClinVar RCV000169292
- ESP rs111033296
- Pathogenic
- Rare genetic deafness; Nonsyndromic genetic hearing loss; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.53
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.73
- SIFT 0.04
- EVE 0.32
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- 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)