A25G (p.Ala25Gly) variant of RYR1 (Ryanodine receptor 1)
A25G (p.Ala25Gly) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- TOPMed rs1349001916
- gnomAD rs1349001916
- Missense
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)