S2C (p.Ser2Cys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
S2C (p.Ser2Cys) 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, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- gnomAD X-41334256-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.30
- ESM-1b 0.15
- AlphaMissense 0.58
- CADD 24.90
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available