A26E (p.Ala26Glu) variant of RYR2 (Ryanodine receptor 2)
A26E (p.Ala26Glu) 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.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- gnomAD 1-237270525-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.80
- MetaLR 0.88
- MetaSVM 0.90
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available