D54N (p.Asp54Asn) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
D54N (p.Asp54Asn) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- rs1187201543
- TOPMed rs1187201543
- gnomAD rs1187201543
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.07
- ESM-1b 0.04
- AlphaMissense 0.17
- CADD 24.90
- PolyPhen-2 0.04
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available