L535P (p.Leu535Pro) variant of NF2 (Merlin)
L535P (p.Leu535Pro) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 2. The record also includes published literature and structural context.
L535P (p.Leu535Pro) variant details
- p.Leu535Pro
- rs74315493
- ClinGen CA021356
- ClinVar RCV000003447
- UniProt VAR 000825
- Pathogenic
- Neurofibromatosis, type 2
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 2)
- EBI: Pathogenic (in SWNV)
- UniProt: Pathogenic (in SWNV)
- Structural context available
- Cited in: Diagnostic issues in a family with late onset type 2 neurofibromatosis. (PMID 7666400)
- Cited in: Eleven novel mutations in the NF2 tumour suppressor gene. (PMID 7759081)