S6C (p.Ser6Cys) variant of CDC73 (Parafibromin)
S6C (p.Ser6Cys) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- ExAC rs770544416
- gnomAD rs770544416
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available