K28M (p.Lys28Met) variant of NPHS2 (Podocin)
K28M (p.Lys28Met) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPHS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K28M (p.Lys28Met) variant details
- p.Lys28Met
- rs1340195940
- UniProt VAR 072137
- TOPMed rs1340195940
- gnomAD rs1340195940
- Pathogenic
- in NPHS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.62
- CADD 22.30
- PolyPhen-2 0.44
- SIFT 0.01
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)