G4W (p.Gly4Trp) variant of RYR3 (Ryanodine receptor 3)
G4W (p.Gly4Trp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- gnomAD 15-33311055-G-T
- Missense
- MetaLR 0.84
- MetaSVM 0.20
- CADD 25.00
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available