K57T (p.Lys57Thr) variant of RYR3 (Ryanodine receptor 3)
K57T (p.Lys57Thr) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
K57T (p.Lys57Thr) variant details
- p.Lys57Thr
- gnomAD rs1167402707
- Missense
- MetaLR 0.95
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)