Q58K (p.Gln58Lys) variant of APOC3 (Apolipoprotein C-III)
Q58K (p.Gln58Lys) 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 0.44 / 1. The record also includes structural context.
Q58K (p.Gln58Lys) variant details
- p.Gln58Lys
- rs1591326474
- ClinGen CA382710152
- ClinVar RCV002407404
- Ensembl rs1591326474
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.11
- MetaLR 0.38
- MetaSVM -0.73
- PolyPhen-2 0.12
- SIFT 0.70
- EVE 0.39
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available