R723W (p.Arg723Trp) variant of MAPT (P10636)
R723W (p.Arg723Trp) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R723W (p.Arg723Trp) variant details
- p.Arg723Trp
- rs63750424
- ClinGen CA225495
- NCI-TCGA Cosmic COSV5224
- cosmic curated COSV52241
- Pathogenic
- Frontotemporal dementia; Supranuclear palsy, progressive, 1; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.53
- MetaLR 0.08
- MetaSVM -0.93
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.45
- ClinVar: Pathogenic (Frontotemporal dementia; Supranuclear palsy, progressive, 1; Pic)
- EBI: Pathogenic (in FTD1/Alzheimer disease)
- UniProt: Pathogenic (in FTD1/Alzheimer disease)
- Population evidence available
- Structural context available
- Cited in: Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. (PMID 10214944)
- Cited in: Phenotypic variation in hereditary frontotemporal dementia with tau mutations. (PMID 10514099)