L79V (p.Leu79Val) variant of DDX41 (Q9UJV9)
L79V (p.Leu79Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
L79V (p.Leu79Val) variant details
- p.Leu79Val
- ExAC rs750924167
- TOPMed rs750924167
- gnomAD rs750924167
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available