T49S (p.Thr49Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
T49S (p.Thr49Ser) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- gnomAD X-41339077-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0974
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available