L58Q (p.Leu58Gln) variant of APOC2 (Apolipoprotein C-II)
L58Q (p.Leu58Gln) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L58Q (p.Leu58Gln) variant details
- p.Leu58Gln
- ExAC rs779492201
- gnomAD rs779492201
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.69
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available