S46L (p.Ser46Leu) variant of APOC2 (Apolipoprotein C-II)
S46L (p.Ser46Leu) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S46L (p.Ser46Leu) variant details
- p.Ser46Leu
- rs892589195
- gnomAD 19-44948779-CCA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 12.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available