P519S (p.Pro519Ser) variant of NPHS1 (Nephrin)
P519S (p.Pro519Ser) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P519S (p.Pro519Ser) variant details
- p.Pro519Ser
- rs386833884
- ClinGen CA250125
- ClinVar RCV000049855
- ClinVar RCV002513691
- Pathogenic/Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.48
- CADD 28.90
- PolyPhen-2 0.90
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. (PMID 18503012)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)