S36Y (p.Ser36Tyr) variant of FAT2 (Protocadherin Fat 2)
S36Y (p.Ser36Tyr) 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. The record also includes variant effect predictions and population frequency data.
S36Y (p.Ser36Tyr) variant details
- p.Ser36Tyr
- 1000Genomes rs574821566
- ExAC rs574821566
- TOPMed rs574821566
- gnomAD rs574821566
- Uncertain significance
- not specified
- Missense
- REVEL 0.07
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available