E53D (p.Glu53Asp) variant of MAPT (P10636)
E53D (p.Glu53Asp) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E53D (p.Glu53Asp) variant details
- p.Glu53Asp
- rs1196222070
- ClinGen CA399898082
- ClinVar RCV003844613
- TOPMed rs1196222070
- Uncertain significance
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0861
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.97
- CADD 5.36
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)