D9V (p.Asp9Val) variant of RYR2 (Ryanodine receptor 2)
D9V (p.Asp9Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D9V (p.Asp9Val) variant details
- p.Asp9Val
- gnomAD 1-237042547-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.81
- MetaLR 0.88
- MetaSVM 0.88
- CADD 26.10
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available