I742T (p.Ile742Thr) variant of NPHS1 (Nephrin)
I742T (p.Ile742Thr) 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 0.42 / 1. The record also includes published literature and structural context.
I742T (p.Ile742Thr) variant details
- p.Ile742Thr
- rs386833908
- ClinGen CA250176
- ClinVar RCV000049881
- UniProt VAR 067252
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.90
- MetaLR 0.10
- MetaSVM -0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Structural context available
- Cited in: Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. (PMID 22009864)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)