E47A (p.Glu47Ala) variant of JPH2 (Junctophilin-2)
E47A (p.Glu47Ala) 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 0.45 / 1. The record also includes structural context.
E47A (p.Glu47Ala) variant details
- p.Glu47Ala
- rs2072846446
- ClinGen CA409095445
- ClinVar RCV001051958
- Ensembl rs2072846446
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.55
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available