G23D (p.Gly23Asp) variant of FAT1 (Protocadherin Fat 1)
G23D (p.Gly23Asp) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs769132614
- ExAC rs769132614
- gnomAD rs769132614
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.74
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available