T124P (p.Thr124Pro) variant of SHANK1 (Q9Y566)
T124P (p.Thr124Pro) in SHANK1 (Q9Y566) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T124P (p.Thr124Pro) variant details
- p.Thr124Pro
- ExAC rs751125503
- TOPMed rs751125503
- gnomAD rs751125503
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available