G5A (p.Gly5Ala) variant of RYR2 (Ryanodine receptor 2)
G5A (p.Gly5Ala) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- gnomAD 1-237042530-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available