S572N (p.Ser572Asn) variant of NPHS1 (Nephrin)
S572N (p.Ser572Asn) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S572N (p.Ser572Asn) variant details
- p.Ser572Asn
- rs386833889
- ClinGen CA250136
- ClinVar RCV000049860
- ClinVar RCV000487117
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.63
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)