G4W (p.Gly4Trp) variant of RYR2 (Ryanodine receptor 2)
G4W (p.Gly4Trp) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- gnomAD 1-237042531-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.61
- MetaLR 0.88
- MetaSVM 0.76
- CADD 25.50
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available