A13V (p.Ala13Val) variant of JPH2 (Junctophilin-2)
A13V (p.Ala13Val) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar 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 0.51 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- TOPMed rs1403299005
- gnomAD rs1403299005
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.30
- CADD 29.90
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available