R97W (p.Arg97Trp) variant of JPH2 (Junctophilin-2)
R97W (p.Arg97Trp) 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 0.45 / 1. The record also includes population frequency data and structural context.
R97W (p.Arg97Trp) variant details
- p.Arg97Trp
- rs746943770
- ClinGen CA9868897
- cosmic curated COSV10441
- ClinVar RCV001053688
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.30
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available