Q31K (p.Gln31Lys) variant of RYR1 (Ryanodine receptor 1)
Q31K (p.Gln31Lys) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
Q31K (p.Gln31Lys) variant details
- p.Gln31Lys
- TOPMed rs1972636449
- gnomAD rs1972636449
- Missense
- REVEL 0.52
- MetaLR 0.90
- MetaSVM 1.10
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.32
- Most common in the South Asian population (allele frequency 0.00044)