S53P (p.Ser53Pro) variant of FERMT1 (Fermitin family homolog 1)
S53P (p.Ser53Pro) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- ExAC rs747990571
- TOPMed rs747990571
- gnomAD rs747990571
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available