A66T (p.Ala66Thr) variant of APOC2 (Apolipoprotein C-II)
A66T (p.Ala66Thr) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- rs770092327
- ClinGen CA9506620
- ClinVar RCV004518527
- ExAC rs770092327
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.11
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.86
- CADD 0.01
- PolyPhen-2 0.02
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available