P6R (p.Pro6Arg) variant of DDX41 (Q9UJV9)
P6R (p.Pro6Arg) 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 0.48 / 1. The record also includes population frequency data and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- ExAC rs757444745
- gnomAD rs757444745
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 24.70
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available