T42A (p.Thr42Ala) variant of APOC3 (Apolipoprotein C-III)
T42A (p.Thr42Ala) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- gnomAD 11-116830841-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.41
- CADD 22.40
- PolyPhen-2 0.91
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available