E49A (p.Glu49Ala) variant of APOC2 (Apolipoprotein C-II)
E49A (p.Glu49Ala) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E49A (p.Glu49Ala) variant details
- p.Glu49Ala
- gnomAD 19-44948791-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.14
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available