C36S (p.Cys36Ser) variant of RYR2 (Ryanodine receptor 2)
C36S (p.Cys36Ser) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C36S (p.Cys36Ser) variant details
- p.Cys36Ser
- gnomAD 1-237270554-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.89
- MetaLR 0.26
- MetaSVM -0.67
- CADD 25.70
- PolyPhen-2 0.58
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available