S116C (p.Ser116Cys) variant of LRP2 (P98164)
S116C (p.Ser116Cys) in LRP2 (P98164) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S116C (p.Ser116Cys) variant details
- p.Ser116Cys
- ExAC rs776383533
- TOPMed rs776383533
- gnomAD rs776383533
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available