V21F (p.Val21Phe) variant of RYR2 (Ryanodine receptor 2)
V21F (p.Val21Phe) 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.
V21F (p.Val21Phe) variant details
- p.Val21Phe
- gnomAD 1-237270509-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.84
- MetaLR 0.90
- MetaSVM 1.03
- CADD 27.90
- PolyPhen-2 0.88
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available