A61E (p.Ala61Glu) variant of NPHS1 (Nephrin)
A61E (p.Ala61Glu) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
A61E (p.Ala61Glu) variant details
- p.Ala61Glu
- 1000Genomes rs116620503
- ExAC rs116620503
- TOPMed rs116620503
- gnomAD rs116620503
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available