G17A (p.Gly17Ala) variant of GRN (Progranulin)
G17A (p.Gly17Ala) 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 0.49 / 1. The record also includes published literature and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs2048348029
- ClinGen CA399759151
- ClinVar RCV002944274
- Uncertain significance
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.23
- MetaLR 0.48
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.53
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)