R9G (p.Arg9Gly) variant of PDE6B (P35913)
R9G (p.Arg9Gly) in PDE6B (P35913) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- 1000Genomes rs140441389
- ESP rs140441389
- ExAC rs140441389
- TOPMed rs140441389
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available