Y129D (p.Tyr129Asp) variant of JPH2 (Junctophilin-2)
Y129D (p.Tyr129Asp) 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 0.76 / 1. The record also includes population frequency data and structural context.
Y129D (p.Tyr129Asp) variant details
- p.Tyr129Asp
- rs777856415
- ClinGen CA335214
- ClinVar RCV000183465
- ClinVar RCV000822701
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.87
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available