P60H (p.Pro60His) variant of RYR3 (Ryanodine receptor 3)
P60H (p.Pro60His) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
P60H (p.Pro60His) variant details
- p.Pro60His
- gnomAD 15-33503638-C-A
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Literature evidence available