R8L (p.Arg8Leu) variant of DDX41 (Q9UJV9)
R8L (p.Arg8Leu) 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 0.35 / 1. The record also includes published literature and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs1761268384
- ClinGen CA362378162
- ClinVar RCV003678462
- ClinVar RCV005323520
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.08
- PolyPhen-2 0.99
- SIFT 0.16
- MutPred 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)