E56* (p.Glu56Ter) variant of NPHS2 (Podocin)
E56* (p.Glu56Ter) in NPHS2 (Podocin) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- rs1167223941
- ClinGen CA343553305
- ClinVar RCV000671272
- ClinVar RCV003688873
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)