T23I (p.Thr23Ile) variant of APOC2 (Apolipoprotein C-II)
T23I (p.Thr23Ile) 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 0.09 / 1. The record also includes population frequency data and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- rs994371401
- ClinGen CA308875692
- ClinVar RCV002362318
- ClinVar RCV005019190
- Uncertain significance
- Cardiovascular phenotype; Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.087
- REVEL 0.10
- CADD 1.06
- PolyPhen-2 0.04
- SIFT 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial apolipoprotein C-II deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available