R711S (p.Arg711Ser) variant of NPHS1 (Nephrin)
R711S (p.Arg711Ser) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R711S (p.Arg711Ser) variant details
- p.Arg711Ser
- rs764181464
- ClinGen CA405397437
- ClinVar RCV001328319
- ClinVar RCV002542859
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.59
- MetaLR 0.45
- MetaSVM -0.01
- CADD 26.80
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)