T40A (p.Thr40Ala) variant of APOC3 (Apolipoprotein C-III)
T40A (p.Thr40Ala) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- rs942960138
- ClinGen CA229318572
- ClinVar RCV002351343
- TOPMed rs942960138
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.10
- MetaLR 0.38
- MetaSVM -0.73
- PolyPhen-2 0.02
- SIFT 0.12
- EVE 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available