D73E (p.Asp73Glu) variant of APOC2 (Apolipoprotein C-II)
D73E (p.Asp73Glu) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D73E (p.Asp73Glu) variant details
- p.Asp73Glu
- gnomAD 19-44949162-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.54
- CADD 17.20
- PolyPhen-2 0.95
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available