P118L (p.Pro118Leu) variant of NPHS2 (Podocin)
P118L (p.Pro118Leu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Proteinuria; not provided; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P118L (p.Pro118Leu) variant details
- p.Pro118Leu
- rs869025495
- ClinGen CA351864
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62634
- Pathogenic/Likely pathogenic
- Proteinuria; not provided; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.91
- CADD 27.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Proteinuria; not provided; Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant… (PMID 15253708)
- Cited in: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West… (PMID 24072147)