S32C (p.Ser32Cys) variant of ABCG8 (Q9H221)
S32C (p.Ser32Cys) in ABCG8 (Q9H221) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- 1000Genomes rs148370122
- ESP rs148370122
- ExAC rs148370122
- TOPMed rs148370122
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available