E42G (p.Glu42Gly) variant of APOC2 (Apolipoprotein C-II)
E42G (p.Glu42Gly) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- gnomAD rs1970350981
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.32
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available