C60G (p.Cys60Gly) variant of GJB2 (Gap junction beta-2 protein)
C60G (p.Cys60Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
C60G (p.Cys60Gly) variant details
- p.Cys60Gly
- rs938857026
- ClinGen CA387461695
- ClinVar RCV003734641
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available