L57R (p.Leu57Arg) variant of GRN (Progranulin)
L57R (p.Leu57Arg) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L57R (p.Leu57Arg) variant details
- p.Leu57Arg
- rs545762769
- ClinGen CA8601779
- ClinVar RCV001041583
- 1000Genomes rs545762769
- Uncertain significance
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.44
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Uncertain significance (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)