S49R (p.Ser49Arg) variant of APOC3 (Apolipoprotein C-III)
S49R (p.Ser49Arg) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- gnomAD 11-116830864-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.24
- CADD 0.03
- PolyPhen-2 0.02
- SIFT 0.34
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available