A55T (p.Ala55Thr) variant of APOC2 (Apolipoprotein C-II)
A55T (p.Ala55Thr) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs750370010
- ClinGen CA9506613
- NCI-TCGA Cosmic COSV5299
- cosmic curated COSV52990
- Uncertain significance
- Cardiovascular phenotype; Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.63
- CADD 21.50
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial apolipoprotein C-II deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available