W681C (p.Trp681Cys) variant of NPHS1 (Nephrin)
W681C (p.Trp681Cys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W681C (p.Trp681Cys) variant details
- p.Trp681Cys
- rs386833900
- ClinGen CA250163
- ClinVar RCV000049872
- UniProt VAR 064219
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the South Asian population (allele frequency 5.8e-05)
- 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)