A2V (p.Ala2Val) variant of RYR2 (Ryanodine receptor 2)
A2V (p.Ala2Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 1-237042526-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.45
- MetaLR 0.83
- MetaSVM 0.79
- CADD 24.00
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available