A5S (p.Ala5Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A5S (p.Ala5Ser) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- ExAC rs776297102
- gnomAD rs776297102
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available