A63E (p.Ala63Glu) variant of FAT2 (Protocadherin Fat 2)
A63E (p.Ala63Glu) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
A63E (p.Ala63Glu) variant details
- p.Ala63Glu
- 1000Genomes rs192641187
- ExAC rs192641187
- TOPMed rs192641187
- gnomAD rs192641187
- Uncertain significance
- Missense
- REVEL 0.12
- CADD 4.98
- PolyPhen-2 0.14
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available