L64P (p.Leu64Pro) variant of NF2 (Merlin)
L64P (p.Leu64Pro) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 2. The record also includes published literature and structural context.
L64P (p.Leu64Pro) variant details
- p.Leu64Pro
- rs2065661430
- ClinGen CA411152573
- ClinVar RCV001303321
- Ensembl rs2065661430
- Likely pathogenic
- Neurofibromatosis, type 2
- Missense
- ClinVar: Likely pathogenic (Neurofibromatosis, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)