Q32R (p.Gln32Arg) variant of RYR2 (Ryanodine receptor 2)
Q32R (p.Gln32Arg) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- gnomAD 1-237270543-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.55
- MetaLR 0.83
- MetaSVM 0.73
- CADD 22.70
- PolyPhen-2 0.29
- SIFT 0.56
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available