Q27R (p.Gln27Arg) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Q27R (p.Gln27Arg) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- gnomAD X-41337442-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available