C20R (p.Cys20Arg) variant of GRN (Progranulin)
C20R (p.Cys20Arg) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C20R (p.Cys20Arg) variant details
- p.Cys20Arg
- rs542613543
- ClinGen CA8601739
- ClinVar RCV001318543
- ClinVar RCV004978315
- Uncertain significance
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.80
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)