S43C (p.Ser43Cys) variant of APOC2 (Apolipoprotein C-II)
S43C (p.Ser43Cys) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S43C (p.Ser43Cys) variant details
- p.Ser43Cys
- NCI-TCGA Cosmic COSV5298
- cosmic curated COSV52989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.52
- CADD 21.90
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available