A59D (p.Ala59Asp) variant of APOC3 (Apolipoprotein C-III)
A59D (p.Ala59Asp) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A59D (p.Ala59Asp) variant details
- p.Ala59Asp
- gnomAD 11-116830893-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.73
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available