D179N (p.Asp179Asn) variant of GJB2 (Gap junction beta-2 protein)
D179N (p.Asp179Asn) 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 Autosomal dominant nonsyndromic hearing loss 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D179N (p.Asp179Asn) variant details
- p.Asp179Asn
- rs28931595
- ClinGen CA257681
- ClinVar RCV000018553
- UniProt VAR 032752
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 3A)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Structural context available
- Cited in: A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. (PMID 12786758)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)