L169P (p.Leu169Pro) variant of NPHS2 (Podocin)
L169P (p.Leu169Pro) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Idiopathic nephrotic syndrome; not provided; Nephrotic syndrome, type 2. 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.
L169P (p.Leu169Pro) variant details
- p.Leu169Pro
- rs762336297
- ClinGen CA1267198
- ClinVar RCV001978682
- ClinVar RCV002271704
- Pathogenic
- Idiopathic nephrotic syndrome; not provided; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.91
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Idiopathic nephrotic syndrome; not provided; Nephrotic syndrome,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)