G13A (p.Gly13Ala) variant of GRN (Progranulin)
G13A (p.Gly13Ala) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs1457930333
- ClinGen CA399759105
- ClinVar RCV001330880
- TOPMed rs1457930333
- Uncertain significance
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.11
- ClinVar: Uncertain significance (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)