G113V (p.Gly113Val) variant of JPH2 (Junctophilin-2)
G113V (p.Gly113Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
G113V (p.Gly113Val) variant details
- p.Gly113Val
- rs2145905804
- ClinGen CA409095004
- ClinVar RCV001763190
- ClinVar RCV006467851
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available