V957E (p.Val957Glu) variant of NPHS1 (Nephrin)
V957E (p.Val957Glu) 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 0.37 / 1. The record also includes published literature and structural context.
V957E (p.Val957Glu) variant details
- p.Val957Glu
- rs763902818
- ClinGen CA405386175
- ClinVar RCV001197140
- ExAC rs763902818
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.14
- MetaLR 0.30
- MetaSVM -0.30
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.14
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)