P78A (p.Pro78Ala) variant of DDX41 (Q9UJV9)
P78A (p.Pro78Ala) 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 0.35 / 1. The record also includes population frequency data and structural context.
P78A (p.Pro78Ala) variant details
- p.Pro78Ala
- TOPMed rs1164510310
- gnomAD rs1164510310
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.08
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available