L12F (p.Leu12Phe) variant of FAT2 (Protocadherin Fat 2)
L12F (p.Leu12Phe) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- ExAC rs779038265
- gnomAD rs779038265
- Uncertain significance
- not provided
- Missense
- REVEL 0.09
- CADD 13.40
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available