E56K (p.Glu56Lys) variant of FAT2 (Protocadherin Fat 2)
E56K (p.Glu56Lys) 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 specified; not provided. The record also includes variant effect predictions and population frequency data.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- 1000Genomes rs569701735
- TOPMed rs569701735
- gnomAD rs569701735
- Uncertain significance
- not specified; not provided
- Missense
- REVEL 0.11
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available