A46V (p.Ala46Val) variant of APOC3 (Apolipoprotein C-III)
A46V (p.Ala46Val) 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.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- gnomAD 11-116830854-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available