V54D (p.Val54Asp) variant of NF1 (Neurofibromin)
V54D (p.Val54Asp) 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.
V54D (p.Val54Asp) variant details
- p.Val54Asp
- Ensembl rs2143626870
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- UniProt: Pathogenic
- Structural context available