C36R (p.Cys36Arg) variant of RYR2 (Ryanodine receptor 2)
C36R (p.Cys36Arg) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C36R (p.Cys36Arg) variant details
- p.Cys36Arg
- gnomAD 1-237270554-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.09
- CADD 27.30
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available