S46* (p.Ser46Ter) variant of NPHS2 (Podocin)
S46* (p.Ser46Ter) in NPHS2 (Podocin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S46* (p.Ser46Ter) variant details
- p.Ser46Ter
- gnomAD rs1327842593
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 34.00
- Population evidence available
- Structural context available