M11L (p.Met11Leu) variant of MAPT (P10636)
M11L (p.Met11Leu) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M11L (p.Met11Leu) variant details
- p.Met11Leu
- rs1262800598
- ClinGen CA399898481
- ClinVar RCV002982990
- TOPMed rs1262800598
- Uncertain significance
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.06
- CADD 12.80
- PolyPhen-2 0.65
- SIFT 0.09
- ClinVar: Uncertain significance (Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)