L643P (p.Leu643Pro) variant of NPHS1 (Nephrin)
L643P (p.Leu643Pro) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Finnish congenital nephrotic syndrome; Congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L643P (p.Leu643Pro) variant details
- p.Leu643Pro
- rs386833898
- ClinGen CA250155
- ClinVar RCV000049869
- ClinVar RCV001003824
- Pathogenic/Likely pathogenic
- Finnish congenital nephrotic syndrome; Congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.91
- MetaLR 0.77
- MetaSVM 0.68
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Finnish congenital nephrotic syndrome; Congenital nephrotic synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)