C160S (p.Cys160Ser) variant of NPHS1 (Nephrin)
C160S (p.Cys160Ser) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C160S (p.Cys160Ser) variant details
- p.Cys160Ser
- rs386833944
- ClinGen CA250240
- ClinVar RCV000049919
- Ensembl rs386833944
- Pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.91
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)