A9D (p.Ala9Asp) variant of GRN (Progranulin)
A9D (p.Ala9Asp) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.44 / 1. The record also includes published literature and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- rs63751243
- ClinGen CA225199
- ClinVar RCV000017386
- ClinVar RCV000084421
- Pathogenic
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.60
- PolyPhen-2 0.51
- SIFT 0.22
- MutPred 0.42
- ClinVar: Pathogenic (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Pathogenic (in FTD2)
- UniProt: Pathogenic (in FTD2)
- Structural context available
- Cited in: HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a… (PMID 16983685)
- Cited in: Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive… (PMID 17984093)