E45Q (p.Glu45Gln) variant of NPHS1 (Nephrin)
E45Q (p.Glu45Gln) 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 0.34 / 1. The record also includes population frequency data and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- 1000Genomes rs199932050
- ExAC rs199932050
- TOPMed rs199932050
- gnomAD rs199932050
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.09
- CADD 16.40
- PolyPhen-2 0.19
- SIFT 0.15
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available