M33V (p.Met33Val) variant of NF2 (Merlin)
M33V (p.Met33Val) 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 published literature and structural context.
M33V (p.Met33Val) variant details
- p.Met33Val
- rs2064718134
- ClinGen CA411146252
- ClinVar RCV003608343
- Ensembl rs2064718134
- 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
- Structural context available
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)