S120P (p.Ser120Pro) variant of NPHS2 (Podocin)
S120P (p.Ser120Pro) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S120P (p.Ser120Pro) variant details
- p.Ser120Pro
- rs779765084
- ClinVar RCV004574391
- ExAC rs779765084
- gnomAD rs779765084
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.91
- CADD 27.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely pathogenic (Nephrotic syndrome, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)