E15K (p.Glu15Lys) variant of DDX41 (Q9UJV9)
E15K (p.Glu15Lys) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs1182905371
- ClinGen CA362377963
- ClinVar RCV003327758
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.11
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available