I171N (p.Ile171Asn) variant of NPHS1 (Nephrin)
I171N (p.Ile171Asn) 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 0.65 / 1. The record also includes published literature and structural context.
I171N (p.Ile171Asn) variant details
- p.Ile171Asn
- rs386833946
- ClinGen CA250245
- ClinVar RCV000049921
- UniProt VAR 013031
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.70
- MetaLR 0.61
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- 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)