R743C (p.Arg743Cys) variant of NPHS1 (Nephrin)
R743C (p.Arg743Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R743C (p.Arg743Cys) variant details
- p.Arg743Cys
- rs386833909
- ClinGen CA250178
- cosmic curated COSV62289
- ClinVar RCV000049882
- Pathogenic/Likely pathogenic
- Finnish congenital nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.37
- MetaLR 0.10
- MetaSVM -1.08
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Finnish congenital nephrotic syndrome; not provided)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)