S45Q (p.Ser45Gln) variant of APOC2 (Apolipoprotein C-II)
S45Q (p.Ser45Gln) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S45Q (p.Ser45Gln) variant details
- p.Ser45Gln
- rs1430203751
- gnomAD 19-44948771-ATC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available