Q538P (p.Gln538Pro) variant of NF2 (Merlin)
Q538P (p.Gln538Pro) 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.
Q538P (p.Gln538Pro) variant details
- p.Gln538Pro
- rs74315494
- ClinGen CA021363
- ClinVar RCV000003448
- UniProt VAR 000826
- Pathogenic
- Neurofibromatosis, type 2
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 2)
- EBI: Pathogenic (in SWNV)
- UniProt: Pathogenic (in SWNV)
- Structural context available
- Cited in: A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. (PMID 8566958)
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)