R115L (p.Arg115Leu) variant of NPHS1 (Nephrin)
R115L (p.Arg115Leu) 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 0.50 / 1. The record also includes population frequency data and structural context.
R115L (p.Arg115Leu) variant details
- p.Arg115Leu
- rs768047120
- ExAC rs768047120
- TOPMed rs768047120
- gnomAD rs768047120
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.36
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.01
- 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