L1915R (p.Leu1915Arg) variant of NF1 (Neurofibromin)
L1915R (p.Leu1915Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 1. The record also includes structural context.
L1915R (p.Leu1915Arg) variant details
- p.Leu1915Arg
- Ensembl rs1555533875
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available