V654M (p.Val654Met) variant of MAPT (P10636)
V654M (p.Val654Met) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
V654M (p.Val654Met) variant details
- p.Val654Met
- rs63750570
- ClinGen CA225483
- ClinVar RCV000015321
- ClinVar RCV000084548
- Pathogenic
- not provided; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (not provided; Frontotemporal dementia)
- 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: Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. (PMID 11255441)