G31D (p.Gly31Asp) variant of JPH2 (Junctophilin-2)
G31D (p.Gly31Asp) 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 0.65 / 1. The record also includes population frequency data and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- rs1569226648
- ClinGen CA409095550
- ClinVar RCV000701324
- ClinVar RCV003362909
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.55
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available