Q80P (p.Gln80Pro) variant of RYR3 (Ryanodine receptor 3)
Q80P (p.Gln80Pro) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
Q80P (p.Gln80Pro) variant details
- p.Gln80Pro
- TOPMed rs2052208073
- gnomAD rs2052208073
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.70
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)