I119T (p.Ile119Thr) variant of FAT2 (Protocadherin Fat 2)
I119T (p.Ile119Thr) 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 specified. The record also includes variant effect predictions and population frequency data.
I119T (p.Ile119Thr) variant details
- p.Ile119Thr
- ExAC rs778215535
- gnomAD rs778215535
- Uncertain significance
- not specified
- Missense
- REVEL 0.51
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available