E69* (p.Glu69Ter) variant of NPHS2 (Podocin)
E69* (p.Glu69Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
E69* (p.Glu69Ter) variant details
- p.Glu69Ter
- rs1434578927
- ClinGen CA343553001
- ClinVar RCV003689971
- TOPMed rs1434578927
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available