W103* (p.Trp103Ter) variant of NPHS2 (Podocin)
W103* (p.Trp103Ter) in NPHS2 (Podocin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
W103* (p.Trp103Ter) variant details
- p.Trp103Ter
- gnomAD rs1254468728
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- Population evidence available
- Structural context available