Y977C (p.Tyr977Cys) variant of NPHS1 (Nephrin)
Y977C (p.Tyr977Cys) 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 0.53 / 1. The record also includes published literature and structural context.
Y977C (p.Tyr977Cys) variant details
- p.Tyr977Cys
- rs2146816353
- ClinGen CA405385548
- ClinVar RCV001795593
- Ensembl rs2146816353
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.41
- MetaLR 0.40
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- 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)