T18M (p.Thr18Met) variant of GRN (Progranulin)
T18M (p.Thr18Met) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuronal ceroid lipofuscinosis 11; GRN-related frontote. 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.
T18M (p.Thr18Met) variant details
- p.Thr18Met
- rs199572314
- ClinGen CA8601736
- ClinVar RCV000521954
- ClinVar RCV000764130
- Uncertain significance
- Inborn genetic diseases; Neuronal ceroid lipofuscinosis 11; GRN-related frontote
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- CADD 18.00
- PolyPhen-2 0.74
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronal ceroid lipofuscinosis 11; GRN-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)