T3I (p.Thr3Ile) variant of APOC2 (Apolipoprotein C-II)
T3I (p.Thr3Ile) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- rs148343756
- ClinGen CA9506565
- ClinVar RCV002096391
- ClinVar RCV002372927
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.11
- CADD 8.13
- PolyPhen-2 0.09
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available