K50K (p.Lys50Lys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
K50K (p.Lys50Lys) in DDX3X (ATP-dependent RNA helicase DDX3X) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K50K (p.Lys50Lys) variant details
- p.Lys50Lys
- gnomAD X-41339082-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available