G5V (p.Gly5Val) variant of RYR2 (Ryanodine receptor 2)
G5V (p.Gly5Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 1-237042535-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.52
- MetaLR 0.86
- MetaSVM 0.82
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available