G19E (p.Gly19Glu) variant of FAT1 (Protocadherin Fat 1)
G19E (p.Gly19Glu) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- 1000Genomes rs200192750
- ESP rs200192750
- ExAC rs200192750
- TOPMed rs200192750
- Likely benign
- Missense
- REVEL 0.22
- CADD 6.42
- PolyPhen-2 0.00
- SIFT 0.83
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available