R1506H (p.Arg1506His) variant of FAT1 (Protocadherin Fat 1)
R1506H (p.Arg1506His) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome. The record also includes variant effect predictions and population frequency data.
R1506H (p.Arg1506His) variant details
- p.Arg1506His
- rs570583897
- ClinGen CA3166698
- ClinVar RCV000845128
- 1000Genomes rs570583897
- Likely pathogenic
- Nephrotic syndrome
- Missense
- REVEL 0.11
- CADD 21.70
- PolyPhen-2 0.14
- SIFT 0.09
- ClinVar: Likely pathogenic (Nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available