W35* (p.Trp35Ter) variant of NPHS1 (Nephrin)
W35* (p.Trp35Ter) in NPHS1 (Nephrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W35* (p.Trp35Ter) variant details
- p.Trp35Ter
- rs1450477596
- ClinGen CA405412314
- ClinVar RCV001891874
- ClinVar RCV003464200
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)