p.Ser24dup variant of DDX3X (ATP-dependent RNA helicase DDX3X)
p.Ser24dup in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser24dup variant details
- gnomAD X-41337428-C-CTCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 20.50
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available