R69Q (p.Arg69Gln) variant of JPH2 (Junctophilin-2)
R69Q (p.Arg69Gln) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- NCI-TCGA TCGA novel
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.45
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available