R97Q (p.Arg97Gln) variant of JPH2 (Junctophilin-2)
R97Q (p.Arg97Gln) 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 0.53 / 1. The record also includes population frequency data and structural context.
R97Q (p.Arg97Gln) variant details
- p.Arg97Gln
- rs1188450169
- ClinGen CA409095116
- ClinVar RCV000689863
- gnomAD rs1188450169
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.32
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available