R460Q (p.Arg460Gln) variant of NPHS1 (Nephrin)
R460Q (p.Arg460Gln) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Kidney disorder; not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R460Q (p.Arg460Gln) variant details
- p.Arg460Gln
- rs386833880
- ClinGen CA250119
- cosmic curated COSV10886
- ClinVar RCV000049851
- Pathogenic/Likely pathogenic
- Kidney disorder; not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.48
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (Kidney disorder; not provided; Finnish congenital nephrotic synd)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. (PMID 11317351)
- Cited in: Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PMID 18614772)