T53S (p.Thr53Ser) variant of RYR3 (Ryanodine receptor 3)
T53S (p.Thr53Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
T53S (p.Thr53Ser) variant details
- p.Thr53Ser
- gnomAD 15-33473525-C-G
- Missense
- MetaLR 0.94
- MetaSVM 1.07
- CADD 23.40
- PolyPhen-2 0.76
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available