R72W (p.Arg72Trp) variant of FAT2 (Protocadherin Fat 2)
R72W (p.Arg72Trp) 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 provided. The record also includes variant effect predictions and population frequency data.
R72W (p.Arg72Trp) variant details
- p.Arg72Trp
- rs147574119
- ClinGen CA3522472
- ClinVar RCV001417501
- ESP rs147574119
- Likely benign
- not provided
- Missense
- REVEL 0.42
- CADD 26.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available