V20A (p.Val20Ala) variant of RYR2 (Ryanodine receptor 2)
V20A (p.Val20Ala) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD 1-237270507-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.91
- MetaLR 0.92
- MetaSVM 1.04
- CADD 24.30
- PolyPhen-2 0.31
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available