G967R (p.Gly967Arg) variant of NPHS1 (Nephrin)
G967R (p.Gly967Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
G967R (p.Gly967Arg) variant details
- p.Gly967Arg
- rs1973023933
- ClinGen CA405385908
- ClinVar RCV003412540
- Pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.97
- MetaLR 0.51
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)