Q22R (p.Gln22Arg) variant of RYR1 (Ryanodine receptor 1)
Q22R (p.Gln22Arg) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- gnomAD 19-38440764-A-G
- Missense
- REVEL 0.78
- MetaLR 0.94
- MetaSVM 1.06
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available