H29H (p.His29His) variant of RYR2 (Ryanodine receptor 2)
H29H (p.His29His) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H29H (p.His29His) variant details
- p.His29His
- gnomAD 1-237270535-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 8.78
- Population evidence available
- Structural context available
- Literature evidence available