R72T (p.Arg72Thr) variant of APOC2 (Apolipoprotein C-II)
R72T (p.Arg72Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
R72T (p.Arg72Thr) variant details
- p.Arg72Thr
- rs1475941193
- ClinGen CA406294878
- ClinVar RCV003560122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.32
- MetaLR 0.58
- MetaSVM -0.35
- PolyPhen-2 0.93
- SIFT 0.26
- MutPred 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available