E44* (p.Glu44Ter) variant of NPHS2 (Podocin)
E44* (p.Glu44Ter) 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 0.40 / 1. The record also includes population frequency data and structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- rs759402903
- ClinGen CA343553635
- ClinVar RCV003881108
- ExAC rs759402903
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available