E38Q (p.Glu38Gln) variant of FAT1 (Protocadherin Fat 1)
E38Q (p.Glu38Gln) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- ExAC rs751034262
- TOPMed rs751034262
- gnomAD rs751034262
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance