G35R (p.Gly35Arg) variant of GRN (Progranulin)
G35R (p.Gly35Arg) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- rs533451404
- ClinGen CA8601748
- NCI-TCGA Cosmic COSV5000
- cosmic curated COSV50006
- Conflicting interpretations
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.22
- CADD 24.70
- PolyPhen-2 0.90
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)