M1T (p.Met1Thr) variant of GRN (Progranulin)
M1T (p.Met1Thr) 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; Neuronal ce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs63751006
- ClinGen CA225193
- ClinVar RCV000017381
- ClinVar RCV000084419
- Pathogenic
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- MetaLR 0.55
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. (PMID 16862115)
- Cited in: Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. (PMID 16862116)