T51A (p.Thr51Ala) variant of RYR1 (Ryanodine receptor 1)
T51A (p.Thr51Ala) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
T51A (p.Thr51Ala) variant details
- p.Thr51Ala
- TOPMed rs1282030898
- gnomAD rs1282030898
- Missense
- REVEL 0.81
- MetaLR 0.94
- MetaSVM 1.05
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.14
- Most common in the 1KG:GIH population (allele frequency 0.0053)