T2I (p.Thr2Ile) variant of FAT2 (Protocadherin Fat 2)
T2I (p.Thr2Ile) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The record also includes variant effect predictions and population frequency data.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- rs746643917
- ClinGen CA3522506
- ClinVar RCV004386019
- ExAC rs746643917
- Likely benign
- not specified
- Missense
- REVEL 0.09
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available