G20E (p.Gly20Glu) variant of DDX41 (Q9UJV9)
G20E (p.Gly20Glu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- rs192558384
- ClinGen CA3585391
- ClinVar RCV002999046
- ClinVar RCV004978437
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.03
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.66
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)