A27S (p.Ala27Ser) variant of RYR3 (Ryanodine receptor 3)
A27S (p.Ala27Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 15-33473446-G-T
- Missense
- MetaLR 0.90
- MetaSVM 0.86
- CADD 17.20
- PolyPhen-2 0.04
- SIFT 0.12
- Population evidence available
- Literature evidence available