E6V (p.Glu6Val) variant of RYR2 (Ryanodine receptor 2)
E6V (p.Glu6Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E6V (p.Glu6Val) variant details
- p.Glu6Val
- gnomAD 1-237042538-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.37
- MetaLR 0.80
- MetaSVM 0.32
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available