M32K (p.Met32Lys) variant of APOC3 (Apolipoprotein C-III)
M32K (p.Met32Lys) 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 0.68 / 1. The record also includes structural context.
M32K (p.Met32Lys) variant details
- p.Met32Lys
- rs1288391287
- ClinGen CA382709932
- ClinVar RCV004320105
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.67
- MetaLR 0.67
- MetaSVM 0.15
- PolyPhen-2 0.82
- SIFT 0.01
- EVE 0.76
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available