S49N (p.Ser49Asn) variant of APOC3 (Apolipoprotein C-III)
S49N (p.Ser49Asn) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- cosmic curated COSV52635
- gnomAD rs1416171435
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.14
- CADD 1.67
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available