L107P (p.Leu107Pro) variant of NPHS2 (Podocin)
L107P (p.Leu107Pro) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPHS2. The record also includes published literature and structural context.
L107P (p.Leu107Pro) variant details
- p.Leu107Pro
- UniProt VAR 071217
- Pathogenic
- in NPHS2
- Missense
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. (PMID 24227627)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)