S102R (p.Ser102Arg) variant of JPH2 (Junctophilin-2)
S102R (p.Ser102Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S102R (p.Ser102Arg) variant details
- p.Ser102Arg
- rs779455211
- ClinGen CA409095082
- ClinVar RCV003587797
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.29
- CADD 21.40
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available