E90R (p.Glu90Arg) variant of NPHS2 (Podocin)
E90R (p.Glu90Arg) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E90R (p.Glu90Arg) variant details
- p.Glu90Arg
- rs761298708
- ClinGen CA1267286
- ClinVar RCV002474422
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available