R407W (p.Arg407Trp) variant of NPHS1 (Nephrin)
R407W (p.Arg407Trp) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R407W (p.Arg407Trp) variant details
- p.Arg407Trp
- rs386833874
- ClinGen CA250107
- cosmic curated COSV62287
- ClinVar RCV000049843
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.58
- MetaLR 0.49
- MetaSVM -0.38
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). (PMID 20172850)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)