D32A (p.Asp32Ala) variant of DDX41 (Q9UJV9)
D32A (p.Asp32Ala) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D32A (p.Asp32Ala) variant details
- p.Asp32Ala
- ExAC rs772969629
- gnomAD rs772969629
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0017)
- Structural context available