A18T (p.Ala18Thr) variant of DDX41 (Q9UJV9)
A18T (p.Ala18Thr) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- ExAC rs747566780
- TOPMed rs747566780
- gnomAD rs747566780
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.05
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available