R19Q (p.Arg19Gln) variant of GRN (Progranulin)
R19Q (p.Arg19Gln) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- rs764665710
- ClinGen CA8601738
- cosmic curated COSV50007
- ClinVar RCV001952401
- Uncertain significance
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.0681
- REVEL 0.03
- CADD 5.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Variant of uncertain significance (in dbSNP:rs63750723)
- UniProt: Uncertain significance (in dbSNP:rs63750723)
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)