E49K (p.Glu49Lys) variant of APOC2 (Apolipoprotein C-II)
E49K (p.Glu49Lys) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- gnomAD 19-44948790-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.17
- CADD 20.90
- PolyPhen-2 0.06
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available