E99* (p.Glu99Ter) variant of NPHS1 (Nephrin)
E99* (p.Glu99Ter) in NPHS1 (Nephrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
E99* (p.Glu99Ter) variant details
- p.Glu99Ter
- rs1006352232
- ClinGen CA405411075
- ClinVar RCV002306992
- ClinVar RCV003099160
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.96
- PolyPhen-2 0.95
- SIFT 0.10
- EVE 0.22
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)