A25S (p.Ala25Ser) variant of RYR1 (Ryanodine receptor 1)
A25S (p.Ala25Ser) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 19-38440772-G-T
- Missense
- REVEL 0.66
- MetaLR 0.93
- MetaSVM 0.99
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.12
- Population evidence available
- Literature evidence available