A26S (p.Ala26Ser) variant of RYR2 (Ryanodine receptor 2)
A26S (p.Ala26Ser) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 1-237270524-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.67
- MetaLR 0.94
- MetaSVM 1.01
- CADD 23.10
- PolyPhen-2 0.89
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available