V16L (p.Val16Leu) variant of DDX41 (Q9UJV9)
V16L (p.Val16Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- ExAC rs781328203
- TOPMed rs781328203
- gnomAD rs781328203
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.03
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available