C42G (p.Cys42Gly) variant of GRN (Progranulin)
C42G (p.Cys42Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
C42G (p.Cys42Gly) variant details
- p.Cys42Gly
- rs1160868911
- ClinGen CA399759447
- ClinVar RCV003991678
- Uncertain significance
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.70
- MetaLR 0.49
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- 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)