D33E (p.Asp33Glu) variant of GRN (Progranulin)
D33E (p.Asp33Glu) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- rs63750742
- ClinGen CA8601746
- ClinVar RCV001124955
- ClinVar RCV001242925
- Conflicting interpretations
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.11
- CADD 8.00
- PolyPhen-2 0.20
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)