S54C (p.Ser54Cys) variant of FAT2 (Protocadherin Fat 2)
S54C (p.Ser54Cys) 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.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- rs1226846110
- ClinGen CA361817820
- ClinVar RCV003047957
- gnomAD rs1226846110
- Uncertain significance
- not provided
- Missense
- REVEL 0.59
- CADD 25.80
- PolyPhen-2 0.82
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available