R42G (p.Arg42Gly) variant of DDX41 (Q9UJV9)
R42G (p.Arg42Gly) in DDX41 (Q9UJV9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- TOPMed rs1414400375
- gnomAD rs1414400375
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.28
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.9e-05)
- Structural context available