E30* (p.Glu30Ter) variant of NPHS2 (Podocin)
E30* (p.Glu30Ter) in NPHS2 (Podocin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in NPHS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- TOPMed rs1477180313
- gnomAD rs1477180313
- Uncertain significance
- in NPHS2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 35.00
- EBI: Variant of uncertain significance (in NPHS2)
- UniProt: Uncertain significance (in NPHS2)
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available