L334P (p.Leu334Pro) variant of NPHS1 (Nephrin)
L334P (p.Leu334Pro) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L334P (p.Leu334Pro) variant details
- p.Leu334Pro
- rs1235916533
- ClinGen CA405406637
- ClinVar RCV003233060
- gnomAD rs1235916533
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.91
- MetaLR 0.89
- MetaSVM 0.97
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)