S569R (p.Ser569Arg) variant of NPHS1 (Nephrin)
S569R (p.Ser569Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
S569R (p.Ser569Arg) variant details
- p.Ser569Arg
- rs386833888
- ClinVar RCV004594767
- UniProt VAR 064212
- ClinGen CA250134
- Pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Structural context available
- Cited in: Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. (PMID 18503012)
- Cited in: Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. (PMID 10652016)