N673K (p.Asn673Lys) variant of NPHS1 (Nephrin)
N673K (p.Asn673Lys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N673K (p.Asn673Lys) variant details
- p.Asn673Lys
- rs191807913
- 1000Genomes rs191807913
- ExAC rs191807913
- gnomAD rs191807913
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.91
- MetaLR 0.45
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Population evidence available
- Structural context available
- Cited in: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). (PMID 20172850)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)