M1I (p.Met1Ile) variant of GRN (Progranulin)
M1I (p.Met1Ile) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GRN-related frontotemporal lobar degeneration with Tdp43 inclusions. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs63750331
- ClinGen CA225196
- ClinVar RCV000017382
- ClinVar RCV000084420
- Pathogenic
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- MetaLR 0.56
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.80
- ClinVar: Pathogenic (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. (PMID 16862115)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)