M1V (p.Met1Val) variant of GRN (Progranulin)
M1V (p.Met1Val) 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 0.56 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs746037872
- ClinGen CA399758963
- ClinVar RCV002047593
- Pathogenic
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.55
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.96
- ClinVar: Pathogenic (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: GRN Frontotemporal Dementia. (PMID 20301545)