G59R (p.Gly59Arg) variant of GJB2 (Gap junction beta-2 protein)
G59R (p.Gly59Arg) 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 Autosomal recessive nonsyndromic hearing loss 1A; Palmoplantar keratoderma-deafn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- rs104894410
- ClinGen CA387461703
- ClinVar RCV000588875
- Ensembl rs104894410
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A; Palmoplantar keratoderma-deafn
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A; Palmoplantar k)
- EBI: Pathogenic (in BAPS)
- UniProt: Pathogenic (in BAPS)
- Structural context available