E76* (p.Glu76Ter) variant of NPHS2 (Podocin)
E76* (p.Glu76Ter) in NPHS2 (Podocin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E76* (p.Glu76Ter) variant details
- p.Glu76Ter
- TOPMed rs1674730598
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 38.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available