K34R (p.Lys34Arg) variant of RYR2 (Ryanodine receptor 2)
K34R (p.Lys34Arg) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- gnomAD 1-237270549-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.60
- MetaLR 0.85
- MetaSVM 0.89
- CADD 23.90
- PolyPhen-2 0.58
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available