S54G (p.Ser54Gly) variant of GRN (Progranulin)
S54G (p.Ser54Gly) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- rs2143326730
- ClinGen CA399759637
- ClinVar RCV001910389
- Ensembl rs2143326730
- Uncertain significance
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.18
- CADD 25.70
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)