G59D (p.Gly59Asp) variant of GJB2 (Gap junction beta-2 protein)
G59D (p.Gly59Asp) 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 Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- rs104894404
- ClinGen CA273153
- ClinVar RCV000150733
- Ensembl rs104894404
- Likely pathogenic
- Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Rare genetic deafness)
- EBI: Pathogenic (in BAPS)
- UniProt: Pathogenic (in BAPS)
- Structural context available