A38V (p.Ala38Val) variant of RYR2 (Ryanodine receptor 2)
A38V (p.Ala38Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 1-237270561-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.84
- MetaLR 0.28
- MetaSVM -0.54
- CADD 26.70
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available