G14A (p.Gly14Ala) variant of ABCG8 (Q9H221)
G14A (p.Gly14Ala) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- rs773804452
- ClinGen CA346662537
- ClinVar RCV003177192
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available