E28K (p.Glu28Lys) variant of FAT1 (Protocadherin Fat 1)
E28K (p.Glu28Lys) in FAT1 (Protocadherin Fat 1) is a missense change. The record also includes variant effect predictions and population frequency data.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- Ensembl rs2126706432
- Missense
- REVEL 0.14
- CADD 15.10
- PolyPhen-2 0.03
- SIFT 0.60
- Population evidence available