S49I (p.Ser49Ile) variant of APOC3 (Apolipoprotein C-III)
S49I (p.Ser49Ile) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S49I (p.Ser49Ile) variant details
- p.Ser49Ile
- gnomAD rs1416171435
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.35
- CADD 15.30
- PolyPhen-2 0.63
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available