V55D (p.Val55Asp) variant of NPHS1 (Nephrin)
V55D (p.Val55Asp) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
V55D (p.Val55Asp) variant details
- p.Val55Asp
- rs2513786002
- ClinGen CA2584604473
- ClinVar RCV003572094
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available