R50S (p.Arg50Ser) variant of ABCG5 (Q9H222)
R50S (p.Arg50Ser) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- 1000Genomes rs6756629
- ESP rs6756629
- ExAC rs6756629
- TOPMed rs6756629
- Benign
- Missense
- EBI: Benign (in dbSNP:rs6756629)
- UniProt: Benign (in dbSNP:rs6756629)
- Structural context available