R711C (p.Arg711Cys) variant of NPHS1 (Nephrin)
R711C (p.Arg711Cys) 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 0.70 / 1. The record also includes population frequency data and structural context.
R711C (p.Arg711Cys) variant details
- p.Arg711Cys
- rs764181464
- ExAC rs764181464
- gnomAD rs764181464
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.68
- MetaLR 0.56
- MetaSVM 0.17
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available