E10V (p.Glu10Val) variant of RYR2 (Ryanodine receptor 2)
E10V (p.Glu10Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- gnomAD 1-237042550-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.48
- MetaLR 0.86
- MetaSVM 0.71
- CADD 24.50
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available