H26Y (p.His26Tyr) variant of JPH2 (Junctophilin-2)
H26Y (p.His26Tyr) 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 0.38 / 1. The record also includes structural context.
H26Y (p.His26Tyr) variant details
- p.His26Tyr
- rs1223183088
- ClinGen CA409095583
- ClinVar RCV004524509
- ClinVar RCV005100612
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.29
- MetaLR 0.16
- MetaSVM -0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.42
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available