L517P (p.Leu517Pro) variant of NF2 (Merlin)
L517P (p.Leu517Pro) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The record also includes published literature and structural context.
L517P (p.Leu517Pro) variant details
- p.Leu517Pro
- rs1556002568
- ClinGen CA411149762
- ClinVar RCV000660136
- ClinVar RCV001567642
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Neurofibr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)