E50A (p.Glu50Ala) variant of NPHS1 (Nephrin)
E50A (p.Glu50Ala) in NPHS1 (Nephrin) is a missense change. The record also includes structural context.
E50A (p.Glu50Ala) variant details
- p.Glu50Ala
- TOPMed rs1244719642
- Missense
- Structural context available