R367C (p.Arg367Cys) variant of NPHS1 (Nephrin)
R367C (p.Arg367Cys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Finnish congenital nephrotic syndrome; not provided; Focal segmental glomerulosc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R367C (p.Arg367Cys) variant details
- p.Arg367Cys
- rs386833865
- ClinGen CA250087
- ClinVar RCV000049834
- ClinVar RCV001380444
- Pathogenic/Likely pathogenic
- Finnish congenital nephrotic syndrome; not provided; Focal segmental glomerulosc
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.66
- MetaLR 0.52
- MetaSVM 0.05
- CADD 28.90
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Finnish congenital nephrotic syndrome; not provided; Focal segme)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. (PMID 11317351)
- Cited in: Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital… (PMID 11726550)