G4R (p.Gly4Arg) variant of NPHS1 (Nephrin)
G4R (p.Gly4Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs1338229781
- ClinGen CA405412771
- ClinVar RCV001578737
- gnomAD rs1338229781
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.08
- MetaLR 0.13
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.54
- MutPred 0.33
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)