Q41L (p.Gln41Leu) variant of DDX41 (Q9UJV9)
Q41L (p.Gln41Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
Q41L (p.Gln41Leu) variant details
- p.Gln41Leu
- TOPMed rs1204442192
- gnomAD rs1204442192
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available