S4A (p.Ser4Ala) variant of DDX41 (Q9UJV9)
S4A (p.Ser4Ala) 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 0.76 / 1. The record also includes population frequency data and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- ExAC rs771770596
- gnomAD rs771770596
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 4.5e-05)
- Structural context available