P17S (p.Pro17Ser) variant of DDX41 (Q9UJV9)
P17S (p.Pro17Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs1761259570
- ClinGen CA362377948
- ClinVar RCV002695440
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.05
- MetaLR 0.02
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.69
- MutPred 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available