R115C (p.Arg115Cys) variant of NPHS1 (Nephrin)
R115C (p.Arg115Cys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R115C (p.Arg115Cys) variant details
- p.Arg115Cys
- ExAC rs756755401
- TOPMed rs756755401
- gnomAD rs756755401
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.27
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available