S129F (p.Ser129Phe) variant of SMARCE1 (Q969G3)
S129F (p.Ser129Phe) in SMARCE1 (Q969G3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S129F (p.Ser129Phe) variant details
- p.Ser129Phe
- ExAC rs769255223
- TOPMed rs769255223
- gnomAD rs769255223
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available