T41I (p.Thr41Ile) variant of FAT2 (Protocadherin Fat 2)
T41I (p.Thr41Ile) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- ExAC rs771965604
- TOPMed rs771965604
- gnomAD rs771965604
- Uncertain significance
- not provided
- Missense
- REVEL 0.37
- CADD 25.40
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available