A48A (p.Ala48Ala) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A48A (p.Ala48Ala) in DDX3X (ATP-dependent RNA helicase DDX3X) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- rs928417562
- gnomAD X-41339076-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.10
- Most common in the Latino/Admixed American population (allele frequency 9.8e-05)
- Structural context available
- Literature evidence available