E310K (p.Glu310Lys) variant of NPHS2 (Podocin)
E310K (p.Glu310Lys) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E310K (p.Glu310Lys) variant details
- p.Glu310Lys
- rs1673254835
- ClinGen CA343565776
- ClinVar RCV001988904
- ClinVar RCV002479700
- Pathogenic/Likely pathogenic
- not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.69
- AlphaMissense 0.20
- MetaLR 0.98
- MetaSVM 1.10
- CADD 24.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nephrotic syndrome, type 2; Steroid-resistant neph)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: NPHS2 mutations account for only 15% of nephrotic syndrome cases. (PMID 26420286)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)