H29Y (p.His29Tyr) variant of RYR2 (Ryanodine receptor 2)
H29Y (p.His29Tyr) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- gnomAD 1-237270533-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.67
- MetaLR 0.89
- MetaSVM 0.89
- CADD 22.90
- PolyPhen-2 0.46
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available