S350P (p.Ser350Pro) variant of NPHS1 (Nephrin)
S350P (p.Ser350Pro) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S350P (p.Ser350Pro) variant details
- p.Ser350Pro
- rs386833863
- ClinGen CA250083
- ClinVar RCV000049832
- ClinVar RCV001063172
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.62
- MetaLR 0.46
- MetaSVM -0.53
- CADD 23.20
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)