N45K (p.Asn45Lys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
N45K (p.Asn45Lys) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N45K (p.Asn45Lys) variant details
- p.Asn45Lys
- gnomAD X-41339067-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available