A59A (p.Ala59Ala) variant of APOC3 (Apolipoprotein C-III)
A59A (p.Ala59Ala) in APOC3 (Apolipoprotein C-III) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A59A (p.Ala59Ala) variant details
- p.Ala59Ala
- gnomAD 11-116830894-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 23.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available