V21A (p.Val21Ala) variant of RYR3 (Ryanodine receptor 3)
V21A (p.Val21Ala) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- gnomAD 15-33473429-T-C
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.40
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Literature evidence available