L20F (p.Leu20Phe) variant of MAPT (P10636)
L20F (p.Leu20Phe) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- rs1430583458
- ClinGen CA399898568
- ClinVar RCV001874485
- TOPMed rs1430583458
- Uncertain significance
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -1.08
- CADD 21.50
- PolyPhen-2 0.97
- SIFT 0.10
- ClinVar: Uncertain significance (Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)