L583V (p.Leu583Val) variant of MAPT (P10636)
L583V (p.Leu583Val) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
L583V (p.Leu583Val) variant details
- p.Leu583Val
- rs63750349
- ClinGen CA225417
- ClinVar RCV000015336
- ClinVar RCV000084517
- Pathogenic
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.47
- MetaLR 0.80
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.87
- ClinVar: Pathogenic (Frontotemporal dementia)
- EBI: Pathogenic (in FTD1)
- UniProt: Pathogenic (in FTD1)
- Structural context available
- Cited in: A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. (PMID 12509859)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)