E61K (p.Glu61Lys) variant of DDX41 (Q9UJV9)
E61K (p.Glu61Lys) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- Ensembl rs1761234881
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available