R55H (p.Arg55His) variant of DDX41 (Q9UJV9)
R55H (p.Arg55His) 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 0.32 / 1. The record also includes structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- rs1479333618
- ClinGen CA362377464
- ClinVar RCV003229183
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.19
- MetaLR 0.06
- MetaSVM -1.11
- PolyPhen-2 0.03
- SIFT 0.20
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available