A54D (p.Ala54Asp) variant of APOC2 (Apolipoprotein C-II)
A54D (p.Ala54Asp) 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.
A54D (p.Ala54Asp) variant details
- p.Ala54Asp
- gnomAD 19-44948806-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.53
- CADD 22.10
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available