R322P (p.Arg322Pro) variant of NPHS2 (Podocin)
R322P (p.Arg322Pro) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R322P (p.Arg322Pro) variant details
- p.Arg322Pro
- rs776859868
- ClinGen CA1267051
- ClinVar RCV001328094
- ClinVar RCV001788442
- Conflicting interpretations
- not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.96
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Nephrotic syndrome, type 2; Steroid-resistant neph)
- EBI: Likely pathogenic (in NPHS2)
- UniProt: Likely pathogenic (in NPHS2)
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)