G4E (p.Gly4Glu) variant of NPHS1 (Nephrin)
G4E (p.Gly4Glu) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- 1000Genomes rs557888757
- ExAC rs557888757
- gnomAD rs557888757
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.04
- CADD 3.79
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available