M84I (p.Met84Ile) variant of PSEN1 (Presenilin-1)
M84I (p.Met84Ile) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PSEN1-related disorder. The record also includes published literature and structural context.
M84I (p.Met84Ile) variant details
- p.Met84Ile
- rs2503063102
- ClinGen CA390303237
- ClinVar RCV003397808
- ClinGen CA390303235
- Uncertain significance
- PSEN1-related disorder
- Missense
- ClinVar: Uncertain significance (PSEN1-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)