P674L (p.Pro674Leu) variant of NPHS1 (Nephrin)
P674L (p.Pro674Leu) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Finnish congenital nephrotic syndrome. The record also includes published literature and structural context.
P674L (p.Pro674Leu) variant details
- p.Pro674Leu
- rs2513771917
- ClinGen CA405397879
- ClinVar RCV003412538
- Pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- ClinVar: Pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)