C417Y (p.Cys417Tyr) variant of NPHS1 (Nephrin)
C417Y (p.Cys417Tyr) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C417Y (p.Cys417Tyr) variant details
- p.Cys417Tyr
- gnomAD rs386833875
- Likely pathogenic
- Nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Nephrotic syndrome)
- EBI: Likely pathogenic (in NPHS1)
- UniProt: Likely pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available