R3087G (p.Arg3087Gly) variant of FAT1 (Protocadherin Fat 1)
R3087G (p.Arg3087Gly) 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.
R3087G (p.Arg3087Gly) variant details
- p.Arg3087Gly
- rs375998390
- ClinGen CA358957305
- ClinVar RCV000845129
- ESP rs375998390
- Likely pathogenic
- Nephrotic syndrome
- Missense
- REVEL 0.51
- CADD 25.70
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Likely pathogenic (Nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available