A9V (p.Ala9Val) variant of GRN (Progranulin)
A9V (p.Ala9Val) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs63751243
- ClinGen CA8601732
- ClinVar RCV002958641
- ExAC rs63751243
- Uncertain significance
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.60
- CADD 19.70
- PolyPhen-2 0.51
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Pathogenic (in FTD2)
- UniProt: Pathogenic (in FTD2)
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)