C36F (p.Cys36Phe) variant of RYR2 (Ryanodine receptor 2)
C36F (p.Cys36Phe) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C36F (p.Cys36Phe) variant details
- p.Cys36Phe
- gnomAD 1-237270555-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.84
- MetaLR 0.95
- MetaSVM 1.06
- CADD 27.20
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available