P618S (p.Pro618Ser) variant of MAPT (P10636)
P618S (p.Pro618Ser) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P618S (p.Pro618Ser) variant details
- p.Pro618Ser
- rs63751438
- ClinGen CA225439
- ClinVar RCV000015325
- ClinVar RCV000084526
- Likely pathogenic
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Frontotemporal dementia)
- EBI: Pathogenic (in FTD1 and CBD)
- UniProt: Pathogenic (in FTD1 and CBD)
- Structural context available
- Cited in: Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. (PMID 10374757)
- Cited in: FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. (PMID 10553987)