S73P (p.Ser73Pro) variant of RYR3 (Ryanodine receptor 3)
S73P (p.Ser73Pro) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
S73P (p.Ser73Pro) variant details
- p.Ser73Pro
- ExAC rs755357126
- TOPMed rs755357126
- gnomAD rs755357126
- Missense
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.20
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)