A54T (p.Ala54Thr) variant of RYR1 (Ryanodine receptor 1)
A54T (p.Ala54Thr) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs749591578
- ExAC rs749591578
- gnomAD rs749591578
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.67
- MetaLR 0.94
- MetaSVM 1.01
- CADD 24.70
- PolyPhen-2 0.82
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)