A1003V (p.Ala1003Val) variant of FAT1 (Protocadherin Fat 1)
A1003V (p.Ala1003Val) 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.
A1003V (p.Ala1003Val) variant details
- p.Ala1003Val
- rs369363545
- ClinGen CA3167131
- ClinVar RCV000845127
- ESP rs369363545
- Likely pathogenic
- Nephrotic syndrome
- Missense
- REVEL 0.34
- MetaLR 0.15
- MetaSVM -0.94
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Likely pathogenic (Nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available