Q54R (p.Gln54Arg) variant of APOC3 (Apolipoprotein C-III)
Q54R (p.Gln54Arg) 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 Apolipoprotein c-III deficiency. The record also includes structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- rs2540278115
- ClinGen CA382710129
- ClinVar RCV002468525
- Uncertain significance
- Apolipoprotein c-III deficiency
- Missense
- ClinVar: Uncertain significance (Apolipoprotein c-III deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available