A5T (p.Ala5Thr) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A5T (p.Ala5Thr) 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, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD X-41334265-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available