L549R (p.Leu549Arg) variant of NF1 (Neurofibromin)
L549R (p.Leu549Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurofibromatosis, type 1. The record also includes published literature and structural context.
L549R (p.Leu549Arg) variant details
- p.Leu549Arg
- rs2066927581
- ClinGen CA1139665408
- ClinVar RCV001227758
- Pathogenic/Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic (in NF1)
- UniProt: Pathogenic (in NF1)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)