A48S (p.Ala48Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A48S (p.Ala48Ser) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- cosmic curated COSV10944
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.25
- Population evidence available
- Structural context available