T76A (p.Thr76Ala) variant of JPH2 (Junctophilin-2)
T76A (p.Thr76Ala) 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; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- rs764474492
- ClinGen CA9868910
- ClinVar RCV000523455
- ClinVar RCV002476061
- Uncertain significance
- Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dil
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.20
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.06
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 17; Car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available