E42D (p.Glu42Asp) variant of APOC2 (Apolipoprotein C-II)
E42D (p.Glu42Asp) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- gnomAD rs1426808945
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.41
- CADD 9.67
- PolyPhen-2 0.59
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available