E39K (p.Glu39Lys) variant of NPHS1 (Nephrin)
E39K (p.Glu39Lys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Focal segmental glomerulosclerosis; Congenital nephrotic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs375670819
- ClinGen CA9390910
- cosmic curated COSV62287
- ClinVar RCV000370301
- Conflicting interpretations
- Focal segmental glomerulosclerosis; Congenital nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.05
- CADD 20.40
- PolyPhen-2 0.18
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Focal segmental glomerulosclerosis; Congenital nephrotic syndrom)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.0014)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)