E15Q (p.Glu15Gln) variant of DDX41 (Q9UJV9)
E15Q (p.Glu15Gln) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E15Q (p.Glu15Gln) variant details
- p.Glu15Gln
- rs1182905371
- ClinGen CA362377962
- ClinVar RCV003545343
- ClinVar RCV005554966
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.05
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)