G796R (p.Gly796Arg) variant of NPHS1 (Nephrin)
G796R (p.Gly796Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G796R (p.Gly796Arg) variant details
- p.Gly796Arg
- rs1462077116
- ClinVar RCV004574374
- TOPMed rs1462077116
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.55
- MetaLR 0.61
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.30
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)