A55D (p.Ala55Asp) variant of APOC2 (Apolipoprotein C-II)
A55D (p.Ala55Asp) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A55D (p.Ala55Asp) variant details
- p.Ala55Asp
- gnomAD 19-44948809-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.74
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available