C623F (p.Cys623Phe) variant of NPHS1 (Nephrin)
C623F (p.Cys623Phe) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C623F (p.Cys623Phe) variant details
- p.Cys623Phe
- rs386833895
- ClinGen CA250148
- ClinVar RCV000049866
- ClinVar RCV000811777
- Pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: 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 0.00012)
- 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)