P48A (p.Pro48Ala) variant of FAT2 (Protocadherin Fat 2)
P48A (p.Pro48Ala) in FAT2 (Protocadherin Fat 2) is a missense change. The record also includes variant effect predictions and population frequency data.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- ExAC rs745727798
- gnomAD rs745727798
- Missense
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.92
- Population evidence available