D47N (p.Asp47Asn) variant of GRN (Progranulin)
D47N (p.Asp47Asn) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- rs1239690384
- ClinGen CA399759549
- ClinVar RCV000689976
- gnomAD rs1239690384
- Uncertain significance
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- CADD 25.80
- PolyPhen-2 0.79
- SIFT 0.18
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)