G867D (p.Gly867Asp) variant of NPHS1 (Nephrin)
G867D (p.Gly867Asp) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Focal segmental glomerulosclerosis; Finnish congenital nephrotic s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G867D (p.Gly867Asp) variant details
- p.Gly867Asp
- rs753656470
- ClinGen CA9390083
- ClinVar RCV001823659
- ClinVar RCV001869820
- Pathogenic/Likely pathogenic
- not provided; Focal segmental glomerulosclerosis; Finnish congenital nephrotic s
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.83
- MetaLR 0.76
- MetaSVM 0.74
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Focal segmental glomerulosclerosis; Finnish congen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)