H29Q (p.His29Gln) variant of RYR2 (Ryanodine receptor 2)
H29Q (p.His29Gln) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H29Q (p.His29Gln) variant details
- p.His29Gln
- gnomAD 1-237270535-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.45
- MetaLR 0.73
- MetaSVM 0.46
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available