S6C (p.Ser6Cys) variant of IDH1 (O75874)
S6C (p.Ser6Cys) in IDH1 (O75874) 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
- 1000Genomes rs141118556
- ESP rs141118556
- ExAC rs141118556
- TOPMed rs141118556
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available