E2A (p.Glu2Ala) variant of DDX41 (Q9UJV9)
E2A (p.Glu2Ala) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- rs1399847240
- ClinGen CA362378198
- ClinVar RCV001822419
- ClinVar RCV005320881
- Conflicting interpretations
- not provided; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)