R322G (p.Arg322Gly) variant of NPHS2 (Podocin)
R322G (p.Arg322Gly) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Steroid-resistant nephrotic syndrome; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R322G (p.Arg322Gly) variant details
- p.Arg322Gly
- ExAC rs763818901
- TOPMed rs763818901
- gnomAD rs763818901
- Likely pathogenic
- Steroid-resistant nephrotic syndrome; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.89
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Steroid-resistant nephrotic syndrome; Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available