T11S (p.Thr11Ser) variant of APOE (Apolipoprotein E)
T11S (p.Thr11Ser) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- 1000Genomes rs144354013
- ExAC rs144354013
- TOPMed rs144354013
- gnomAD rs144354013
- Uncertain significance
- Alzheimer disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.19
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Alzheimer disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available