A39S (p.Ala39Ser) variant of RYR2 (Ryanodine receptor 2)
A39S (p.Ala39Ser) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- gnomAD 1-237270563-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.83
- MetaLR 0.91
- MetaSVM 1.05
- CADD 26.40
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available