H26R (p.His26Arg) variant of JPH2 (Junctophilin-2)
H26R (p.His26Arg) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H26R (p.His26Arg) variant details
- p.His26Arg
- rs141664528
- ClinGen CA9868930
- ClinVar RCV001915994
- ClinVar RCV002407050
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilate
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.44
- CADD 26.70
- PolyPhen-2 0.92
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available