G87E (p.Gly87Glu) variant of NPHS1 (Nephrin)
G87E (p.Gly87Glu) 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.
G87E (p.Gly87Glu) variant details
- p.Gly87Glu
- ExAC rs748939918
- gnomAD rs748939918
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.42
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available