A39P (p.Ala39Pro) variant of RYR3 (Ryanodine receptor 3)
A39P (p.Ala39Pro) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A39P (p.Ala39Pro) variant details
- p.Ala39Pro
- gnomAD 15-33473482-G-C
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Literature evidence available