E19D (p.Glu19Asp) variant of APOC2 (Apolipoprotein C-II)
E19D (p.Glu19Asp) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 19-44948702-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available