R79C (p.Arg79Cys) variant of JPH2 (Junctophilin-2)
R79C (p.Arg79Cys) 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 0.54 / 1. The record also includes population frequency data and structural context.
R79C (p.Arg79Cys) variant details
- p.Arg79Cys
- rs753220253
- ClinGen CA409095238
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60696
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available