I173N (p.Ile173Asn) variant of NPHS1 (Nephrin)
I173N (p.Ile173Asn) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
I173N (p.Ile173Asn) variant details
- p.Ile173Asn
- rs386833949
- ClinGen CA250251
- ClinVar RCV000049924
- UniProt VAR 013033
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.76
- MetaLR 0.32
- MetaSVM -0.36
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.17
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- 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)