A55S (p.Ala55Ser) variant of APOC2 (Apolipoprotein C-II)
A55S (p.Ala55Ser) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- cosmic curated COSV52990
- ExAC rs750370010
- TOPMed rs750370010
- gnomAD rs750370010
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.61
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available