G97R (p.Gly97Arg) variant of NPHS2 (Podocin)
G97R (p.Gly97Arg) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrotic syndrome, type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G97R (p.Gly97Arg) variant details
- p.Gly97Arg
- rs200913299
- ClinGen CA343571111
- ClinVar RCV003069254
- ClinVar RCV005002943
- Uncertain significance
- Nephrotic syndrome, type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.34
- CADD 17.80
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2; not provided)
- EBI: Variant of uncertain significance (in NPHS2)
- UniProt: Uncertain significance (in NPHS2)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)