A39V (p.Ala39Val) variant of RYR3 (Ryanodine receptor 3)
A39V (p.Ala39Val) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD 15-33473483-C-T
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Literature evidence available