P618L (p.Pro618Leu) variant of MAPT (P10636)
P618L (p.Pro618Leu) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia; Supranuclear palsy, progressive, 1; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
P618L (p.Pro618Leu) variant details
- p.Pro618Leu
- rs63751273
- ClinGen CA225444
- ClinVar RCV000015313
- ClinVar RCV000084527
- Pathogenic
- Frontotemporal dementia; Supranuclear palsy, progressive, 1; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Frontotemporal dementia; Supranuclear palsy, progressive, 1; Pic)
- EBI: Pathogenic (in FTD1)
- UniProt: Pathogenic (in FTD1)
- Structural context available
- Cited in: Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. (PMID 10214944)
- Cited in: Untangling tau-related dementia. (PMID 10767321)