T28P (p.Thr28Pro) variant of RYR3 (Ryanodine receptor 3)
T28P (p.Thr28Pro) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
T28P (p.Thr28Pro) variant details
- p.Thr28Pro
- ExAC rs780220169
- TOPMed rs780220169
- gnomAD rs780220169
- Missense
- MetaLR 0.90
- MetaSVM 0.62
- CADD 21.90
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)