E30K (p.Glu30Lys) variant of NPHS2 (Podocin)
E30K (p.Glu30Lys) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs1477180313
- ClinGen CA343554016
- ClinVar RCV000671814
- UniProt VAR 072138
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.60
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. (PMID 17899208)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)