E87* (p.Glu87Ter) variant of NPHS2 (Podocin)
E87* (p.Glu87Ter) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E87* (p.Glu87Ter) variant details
- p.Glu87Ter
- rs776016821
- ClinGen CA343552591
- ClinVar RCV001174946
- ClinVar RCV001828589
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)