V290M (p.Val290Met) variant of NPHS2 (Podocin)
V290M (p.Val290Met) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; NPHS2-related disorder; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V290M (p.Val290Met) variant details
- p.Val290Met
- rs200482683
- ClinGen CA151130
- ClinVar RCV000114358
- ClinVar RCV000190610
- Pathogenic/Likely pathogenic
- not provided; NPHS2-related disorder; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.76
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; NPHS2-related disorder; Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)
- Cited in: Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. (PMID 22578956)