L71R (p.Leu71Arg) variant of NPHS1 (Nephrin)
L71R (p.Leu71Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L71R (p.Leu71Arg) variant details
- p.Leu71Arg
- rs2513785791
- ClinGen CA2580096903
- ClinVar RCV002797368
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available