P243L (p.Pro243Leu) variant of NPHS1 (Nephrin)
P243L (p.Pro243Leu) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome. The record also includes structural context.
P243L (p.Pro243Leu) variant details
- p.Pro243Leu
- NCI-TCGA TCGA novel
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available