R238S (p.Arg238Ser) variant of NPHS2 (Podocin)
R238S (p.Arg238Ser) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nephrotic syndrome, type 2; not provided; Idiopathic nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R238S (p.Arg238Ser) variant details
- p.Arg238Ser
- rs748812981
- ClinGen CA343567487
- ClinVar RCV001248715
- ClinVar RCV001835346
- Pathogenic/Likely pathogenic
- Nephrotic syndrome, type 2; not provided; Idiopathic nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.92
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Nephrotic syndrome, type 2; not provided; Idiopathic nephrotic s)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Population evidence available
- Structural context available
- Cited in: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant… (PMID 15253708)
- Cited in: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West… (PMID 24072147)