V16M (p.Val16Met) variant of DDX41 (Q9UJV9)
V16M (p.Val16Met) 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 0.18 / 1. The record also includes population frequency data and structural context.
V16M (p.Val16Met) variant details
- p.Val16Met
- ExAC rs781328203
- TOPMed rs781328203
- gnomAD rs781328203
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.03
- CADD 17.10
- PolyPhen-2 0.06
- SIFT 0.26
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available