R19W (p.Arg19Trp) variant of GRN (Progranulin)
R19W (p.Arg19Trp) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Inborn genetic diseases; GRN-related frontotemporal lobar degeneration with Tdp4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R19W (p.Arg19Trp) variant details
- p.Arg19Trp
- rs63750723
- ClinGen CA225201
- cosmic curated COSV99029
- ClinVar RCV000084422
- Benign
- Inborn genetic diseases; GRN-related frontotemporal lobar degeneration with Tdp4
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.14
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Benign (Inborn genetic diseases; GRN-related frontotemporal lobar degene)
- EBI: Benign (in dbSNP:rs63750723)
- UniProt: Benign (in dbSNP:rs63750723)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Cited in: A thorough assessment of benign genetic variability in GRN and MAPT. (PMID 20020531)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)