S572G (p.Ser572Gly) variant of NPHS1 (Nephrin)
S572G (p.Ser572Gly) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S572G (p.Ser572Gly) variant details
- p.Ser572Gly
- rs755254230
- ClinGen CA9390359
- ClinVar RCV000664718
- ClinVar RCV001731855
- Conflicting interpretations
- not specified; not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.67
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Finnish congenital nephrotic syndro)
- EBI: Likely pathogenic (in NPHS1)
- UniProt: Likely pathogenic (in NPHS1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)