A41T (p.Ala41Thr) variant of MAPT (P10636)
A41T (p.Ala41Thr) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- rs115239819
- ClinGen CA8617517
- ClinVar RCV001953160
- 1000Genomes rs115239819
- Uncertain significance
- Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.00
- CADD 6.54
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)