A23T (p.Ala23Thr) variant of APOE (Apolipoprotein E)
A23T (p.Ala23Thr) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 19-44907783-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.26
- CADD 2.03
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available