P681S (p.Pro681Ser) variant of MAPT (P10636)
P681S (p.Pro681Ser) 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 0.96 / 1. The record also includes published literature and structural context.
P681S (p.Pro681Ser) variant details
- p.Pro681Ser
- rs1598408336
- ClinGen CA399983890
- ClinVar RCV003315208
- Pathogenic
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Frontotemporal dementia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)