R976S (p.Arg976Ser) variant of NPHS1 (Nephrin)
R976S (p.Arg976Ser) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of NPHS1-related disorder; Nephrotic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R976S (p.Arg976Ser) variant details
- p.Arg976Ser
- rs138656762
- ClinGen CA250310
- ClinVar RCV000169078
- ClinVar RCV001195706
- Likely pathogenic
- NPHS1-related disorder; Nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.45
- MetaLR 0.22
- MetaSVM -0.74
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PMID 18614772)
- Cited in: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). (PMID 20172850)