A39S (p.Ala39Ser) variant of APOC3 (Apolipoprotein C-III)
A39S (p.Ala39Ser) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- gnomAD 11-116830832-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available