M1L (p.Met1Leu) variant of DDX41 (Q9UJV9)
M1L (p.Met1Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1399057229
- ClinGen CA362378207
- ClinVar RCV002285999
- ClinVar RCV006357411
- Pathogenic
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- MetaLR 0.03
- MetaSVM -1.06
- PolyPhen-2 0.06
- SIFT 0.23
- MutPred 0.99
- ClinVar: Pathogenic (not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)