E42A (p.Glu42Ala) variant of APOC2 (Apolipoprotein C-II)
E42A (p.Glu42Ala) in APOC2 (Apolipoprotein C-II) 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.
E42A (p.Glu42Ala) variant details
- p.Glu42Ala
- gnomAD 19-44948770-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.43
- CADD 19.40
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available