T8S (p.Thr8Ser) variant of ABCG5 (Q9H222)
T8S (p.Thr8Ser) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- ExAC rs757846931
- TOPMed rs757846931
- gnomAD rs757846931
- Uncertain significance
- Missense
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available