A14T (p.Ala14Thr) variant of APOE (Apolipoprotein E)
A14T (p.Ala14Thr) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- 1000Genomes rs559532612
- TOPMed rs559532612
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.16
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available