R40L (p.Arg40Leu) variant of DDX41 (Q9UJV9)
R40L (p.Arg40Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- TOPMed rs1362518112
- gnomAD rs1362518112
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.16
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available