P50L (p.Pro50Leu) variant of GRN (Progranulin)
P50L (p.Pro50Leu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs755224109
- ClinGen CA8601778
- ClinVar RCV003784434
- ExAC rs755224109
- Uncertain significance
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.86
- 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 East Asian population (allele frequency 5e-05)
- 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)