Y82C (p.Tyr82Cys) variant of JPH2 (Junctophilin-2)
Y82C (p.Tyr82Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Y82C (p.Tyr82Cys) variant details
- p.Tyr82Cys
- rs774330827
- ClinGen CA9868905
- ClinVar RCV001991428
- ClinVar RCV002443020
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available