L832P (p.Leu832Pro) variant of NPHS1 (Nephrin)
L832P (p.Leu832Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L832P (p.Leu832Pro) variant details
- p.Leu832Pro
- rs386833916
- ClinGen CA250193
- ClinVar RCV000049890
- UniProt VAR 064224
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.54
- MetaLR 0.16
- MetaSVM -0.75
- CADD 28.20
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PMID 18614772)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)