D140E (p.Asp140Glu) variant of DDX41 (Q9UJV9)
D140E (p.Asp140Glu) 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 0.32 / 1. The record also includes published literature and structural context.
D140E (p.Asp140Glu) variant details
- p.Asp140Glu
- rs1461623455
- ClinGen CA362376313
- ClinVar RCV003041783
- ClinVar RCV005812005
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.17
- MetaLR 0.03
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.35
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)