T3S (p.Thr3Ser) variant of GRN (Progranulin)
T3S (p.Thr3Ser) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
T3S (p.Thr3Ser) variant details
- p.Thr3Ser
- rs375939802
- ClinGen CA290922147
- ClinVar RCV000811134
- ESP rs375939802
- Uncertain significance
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.89
- PolyPhen-2 0.33
- SIFT 0.05
- MutPred 0.35
- ClinVar: Uncertain significance (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- 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)