P35A (p.Pro35Ala) variant of DDX41 (Q9UJV9)
P35A (p.Pro35Ala) 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 0.40 / 1. The record also includes structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- rs2127438057
- ClinGen CA362377797
- ClinVar RCV001769164
- Ensembl rs2127438057
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.32
- MetaLR 0.19
- MetaSVM -0.82
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available