A98C (p.Ala98Cys) variant of ABCG5 (Q9H222)
A98C (p.Ala98Cys) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia 1; Sitosterolemia 2; Sitosterolemia. The record also includes published literature and structural context.
A98C (p.Ala98Cys) variant details
- p.Ala98Cys
- rs1667984117
- ClinGen CA2493937548
- ClinVar RCV001329275
- ClinVar RCV003135984
- Uncertain significance
- Sitosterolemia 1; Sitosterolemia 2; Sitosterolemia
- Missense
- ClinVar: Uncertain significance (Sitosterolemia 1; Sitosterolemia 2; Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)