C265R (p.Cys265Arg) variant of NPHS1 (Nephrin)
C265R (p.Cys265Arg) 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 0.94 / 1. The record also includes published literature and structural context.
C265R (p.Cys265Arg) variant details
- p.Cys265Arg
- rs267606917
- ClinGen CA250040
- ClinVar RCV000007277
- UniProt VAR 064200
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Structural context available
- Cited in: A familial childhood-onset relapsing nephrotic syndrome. (PMID 17290294)
- Cited in: Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning… (PMID 19443487)