L2133V (p.Leu2133Val) variant of NF1 (Neurofibromin)
L2133V (p.Leu2133Val) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 1. The record also includes structural context.
L2133V (p.Leu2133Val) variant details
- p.Leu2133Val
- cosmic curated COSV62221
- Ensembl rs2151555097
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- UniProt: Pathogenic
- Structural context available