R15Q (p.Arg15Gln) variant of RYR2 (Ryanodine receptor 2)
R15Q (p.Arg15Gln) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.55
- MetaLR 0.91
- MetaSVM 0.82
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available