L327F (p.Leu327Phe) variant of NPHS2 (Podocin)
L327F (p.Leu327Phe) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
L327F (p.Leu327Phe) variant details
- p.Leu327Phe
- rs748203170
- ClinGen CA1267046
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62636
- Likely pathogenic
- not provided; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Nephrotic syndrome, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)