D32H (p.Asp32His) variant of DDX41 (Q9UJV9)
D32H (p.Asp32His) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- gnomAD rs1245318068
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.08
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available