G117C (p.Gly117Cys) variant of JPH2 (Junctophilin-2)
G117C (p.Gly117Cys) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G117C (p.Gly117Cys) variant details
- p.Gly117Cys
- rs1414551155
- ClinGen CA409094982
- ClinVar RCV001299683
- TOPMed rs1414551155
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available