E60Q (p.Glu60Gln) variant of APOC2 (Apolipoprotein C-II)
E60Q (p.Glu60Gln) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- gnomAD 19-44948823-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.16
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available