R15G (p.Arg15Gly) variant of RYR2 (Ryanodine receptor 2)
R15G (p.Arg15Gly) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- gnomAD 1-237042564-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.63
- MetaLR 0.89
- MetaSVM 0.39
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available