L360P (p.Leu360Pro) variant of NF2 (Merlin)
L360P (p.Leu360Pro) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 2. The record also includes published literature and structural context.
L360P (p.Leu360Pro) variant details
- p.Leu360Pro
- rs74315492
- ClinGen CA021284
- ClinVar RCV000003443
- UniProt VAR 000822
- Pathogenic
- Neurofibromatosis, type 2
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 2)
- EBI: Pathogenic (in SWNV)
- UniProt: Pathogenic (in SWNV)
- Structural context available
- Cited in: Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel… (PMID 4000972)
- Cited in: Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. (PMID 8379998)