Q98R (p.Gln98Arg) variant of JPH2 (Junctophilin-2)
Q98R (p.Gln98Arg) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q98R (p.Gln98Arg) variant details
- p.Gln98Arg
- Ensembl rs571986135
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- CADD 26.20
- PolyPhen-2 0.72
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00018)
- Structural context available