A2P (p.Ala2Pro) variant of RYR2 (Ryanodine receptor 2)
A2P (p.Ala2Pro) 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.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 1-237042525-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.64
- MetaLR 0.86
- MetaSVM 0.71
- CADD 25.30
- PolyPhen-2 0.53
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available