R711H (p.Arg711His) variant of NPHS1 (Nephrin)
R711H (p.Arg711His) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R711H (p.Arg711His) variant details
- p.Arg711His
- rs926025297
- ClinGen CA307783285
- ClinVar RCV003331616
- UniProt VAR 075253
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.52
- AlphaMissense 0.18
- MetaLR 0.46
- MetaSVM 0.06
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic (in NPHS1)
- UniProt: Likely pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. (PMID 26560236)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)