G270C (p.Gly270Cys) variant of NPHS1 (Nephrin)
G270C (p.Gly270Cys) 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; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G270C (p.Gly270Cys) variant details
- p.Gly270Cys
- rs386833961
- ClinGen CA250275
- NCI-TCGA Cosmic COSV6228
- ClinVar RCV000049936
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.78
- AlphaMissense 0.82
- MetaLR 0.80
- MetaSVM 0.82
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. (PMID 11317351)
- Cited in: Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital… (PMID 11726550)