G126R (p.Gly126Arg) variant of JPH2 (Junctophilin-2)
G126R (p.Gly126Arg) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G126R (p.Gly126Arg) variant details
- p.Gly126Arg
- rs876657834
- ClinGen CA10577123
- cosmic curated COSV60696
- ClinVar RCV000221991
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available