R55L (p.Arg55Leu) variant of DDX41 (Q9UJV9)
R55L (p.Arg55Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- rs1479333618
- ClinGen CA362377461
- ClinVar RCV003878622
- ClinVar RCV005545146
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.06
- AlphaMissense 0.19
- MetaLR 0.06
- MetaSVM -1.11
- CADD 23.10
- PolyPhen-2 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-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)