K50R (p.Lys50Arg) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
K50R (p.Lys50Arg) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- gnomAD X-41339081-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available