Q23R (p.Gln23Arg) variant of RYR2 (Ryanodine receptor 2)
Q23R (p.Gln23Arg) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- gnomAD rs1201196496
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- MetaLR 0.91
- MetaSVM 0.38
- CADD 26.60
- PolyPhen-2 0.68
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available