V8M (p.Val8Met) variant of GRN (Progranulin)
V8M (p.Val8Met) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; GRN-related frontotemporal lobar degeneration with Tdp43 inclusion. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- rs774367010
- ClinGen CA8601731
- ClinVar RCV000729976
- ClinVar RCV002477697
- Uncertain significance
- not provided; GRN-related frontotemporal lobar degeneration with Tdp43 inclusion
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.17
- CADD 21.10
- PolyPhen-2 0.41
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; GRN-related frontotemporal lobar degeneration with)
- 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)