E2K (p.Glu2Lys) variant of DDX41 (Q9UJV9)
E2K (p.Glu2Lys) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- TOPMed rs950718925
- gnomAD rs950718925
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.10
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available