C71F (p.Cys71Phe) variant of SHANK2 (Q9UPX8)
C71F (p.Cys71Phe) in SHANK2 (Q9UPX8) is a missense change. The record also includes population frequency data.
C71F (p.Cys71Phe) variant details
- p.Cys71Phe
- 1000Genomes rs182549877
- ExAC rs182549877
- TOPMed rs182549877
- gnomAD rs182549877
- Missense
- Population evidence available