P61Q (p.Pro61Gln) variant of RYR3 (Ryanodine receptor 3)
P61Q (p.Pro61Gln) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
P61Q (p.Pro61Gln) variant details
- p.Pro61Gln
- gnomAD 15-33503641-C-A
- Missense
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Literature evidence available