S36F (p.Ser36Phe) variant of FAT2 (Protocadherin Fat 2)
S36F (p.Ser36Phe) 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.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- rs574821566
- 1000Genomes rs574821566
- ExAC rs574821566
- TOPMed rs574821566
- Uncertain significance
- not provided
- Missense
- REVEL 0.12
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available