G7V (p.Gly7Val) variant of RYR2 (Ryanodine receptor 2)
G7V (p.Gly7Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- gnomAD 1-237042541-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.65
- MetaLR 0.84
- MetaSVM 0.75
- CADD 23.90
- PolyPhen-2 0.44
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available