D29E (p.Asp29Glu) variant of APOC2 (Apolipoprotein C-II)
D29E (p.Asp29Glu) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- gnomAD 19-44948732-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.30
- CADD 2.36
- PolyPhen-2 0.09
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 0.00017)
- Structural context available
- Literature evidence available