E40* (p.Glu40Ter) variant of NPHS2 (Podocin)
E40* (p.Glu40Ter) in NPHS2 (Podocin) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- rs751695916
- ExAC rs751695916
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available