A5G (p.Ala5Gly) variant of ABCG8 (Q9H221)
A5G (p.Ala5Gly) in ABCG8 (Q9H221) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- TOPMed rs1447413028
- gnomAD rs1447413028
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available