R93C (p.Arg93Cys) variant of JPH2 (Junctophilin-2)
R93C (p.Arg93Cys) 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 0.63 / 1. The record also includes population frequency data and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- rs747893109
- ClinGen CA9868900
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60697
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilate
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available