R25W (p.Arg25Trp) variant of NF2 (Merlin)
R25W (p.Arg25Trp) 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.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs2064716522
- ClinGen CA411146091
- ClinVar RCV001041379
- TOPMed rs2064716522
- 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)