P141S (p.Pro141Ser) variant of DDX41 (Q9UJV9)
P141S (p.Pro141Ser) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P141S (p.Pro141Ser) variant details
- p.Pro141Ser
- rs1761207822
- ClinGen CA362376310
- ClinVar RCV003225405
- gnomAD rs1761207822
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.49
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available