S73A (p.Ser73Ala) variant of RYR3 (Ryanodine receptor 3)
S73A (p.Ser73Ala) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
S73A (p.Ser73Ala) variant details
- p.Ser73Ala
- gnomAD 15-33503676-T-G
- Missense
- MetaLR 0.89
- MetaSVM 0.72
- CADD 22.90
- PolyPhen-2 0.45
- SIFT 1.00
- Population evidence available
- Literature evidence available