R71* (p.Arg71Ter) variant of NPHS2 (Podocin)
R71* (p.Arg71Ter) in NPHS2 (Podocin) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R71* (p.Arg71Ter) variant details
- p.Arg71Ter
- rs1462028977
- ClinGen CA343552954
- ClinVar RCV000664539
- TOPMed rs1462028977
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)