R101L (p.Arg101Leu) variant of DDX41 (Q9UJV9)
R101L (p.Arg101Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R101L (p.Arg101Leu) variant details
- p.Arg101Leu
- NCI-TCGA TCGA novel
- TOPMed rs1761222979
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available