G117S (p.Gly117Ser) variant of JPH2 (Junctophilin-2)
G117S (p.Gly117Ser) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G117S (p.Gly117Ser) variant details
- p.Gly117Ser
- rs1414551155
- ClinGen CA409094981
- ClinVar RCV002020022
- ClinVar RCV002458973
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.11
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available