E198A (p.Glu198Ala) variant of NPHS2 (Podocin)
E198A (p.Glu198Ala) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E198A (p.Glu198Ala) variant details
- p.Glu198Ala
- rs2526273309
- ClinGen CA343568069
- ClinVar RCV003471588
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.87
- CADD 27.50
- PolyPhen-2 0.81
- 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 2.5e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)