G796E (p.Gly796Glu) variant of NPHS1 (Nephrin)
G796E (p.Gly796Glu) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G796E (p.Gly796Glu) variant details
- p.Gly796Glu
- rs2146819844
- ClinGen CA405393664
- ClinVar RCV001996537
- ClinVar RCV004594618
- Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.53
- AlphaMissense 0.43
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.50
- PolyPhen-2 0.26
- ClinVar: Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)