L9R (p.Leu9Arg) variant of CSF3R (Q99062)
L9R (p.Leu9Arg) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- rs778978620
- ClinGen CA20754776
- ClinVar RCV004370335
- Ensembl rs778978620
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.94
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)