R54S (p.Arg54Ser) variant of DDX41 (Q9UJV9)
R54S (p.Arg54Ser) in DDX41 (Q9UJV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- TOPMed rs1364366603
- gnomAD rs1364366603
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.18
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available