T49I (p.Thr49Ile) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
T49I (p.Thr49Ile) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- ExAC rs774308886
- gnomAD rs774308886
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available