G59V (p.Gly59Val) variant of GJB2 (Gap junction beta-2 protein)
G59V (p.Gly59Val) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G59V (p.Gly59Val) variant details
- p.Gly59Val
- rs104894404
- ClinGen CA387461699
- ClinVar RCV002013660
- Ensembl rs104894404
- Pathogenic/Likely pathogenic
- not provided
- 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: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic (in BAPS)
- UniProt: Pathogenic (in BAPS)
- Structural context available