N596K (p.Asn596Lys) variant of MAPT (P10636)
N596K (p.Asn596Lys) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Progressive supranuclear ophthalmoplegia; Frontotemporal dementia; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
N596K (p.Asn596Lys) variant details
- p.Asn596Lys
- rs63750756
- ClinGen CA225424
- ClinVar RCV000015322
- ClinVar RCV000084521
- Pathogenic
- Progressive supranuclear ophthalmoplegia; Frontotemporal dementia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Progressive supranuclear ophthalmoplegia; Frontotemporal dementi)
- EBI: Pathogenic (in FTD1)
- UniProt: Pathogenic (in FTD1)
- Structural context available
- Cited in: A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. (PMID 10412802)
- Cited in: A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. (PMID 10489057)