A18S (p.Ala18Ser) variant of APOE (Apolipoprotein E)
A18S (p.Ala18Ser) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 19-44907768-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.55
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available