M39V (p.Met39Val) variant of NF2 (Merlin)
M39V (p.Met39Val) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The record also includes population frequency data, published literature, and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- rs761188569
- ClinGen CA031138
- ClinVar RCV001241361
- ClinVar RCV002375276
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)