A26V (p.Ala26Val) variant of RYR2 (Ryanodine receptor 2)
A26V (p.Ala26Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- gnomAD 1-237270525-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.71
- MetaLR 0.35
- MetaSVM -0.33
- CADD 24.20
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available