S6R (p.Ser6Arg) variant of GRN (Progranulin)
S6R (p.Ser6Arg) 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 0.52 / 1. The record also includes published literature and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- rs768654819
- ClinGen CA399759026
- ClinVar RCV002710760
- ExAC rs768654819
- Uncertain significance
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.77
- MetaLR 0.46
- MetaSVM -0.50
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.58
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- EBI: Likely benign
- UniProt: Likely benign
- 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)