G54E (p.Gly54Glu) variant of NPHS1 (Nephrin)
G54E (p.Gly54Glu) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- ESP rs369112617
- TOPMed rs369112617
- gnomAD rs369112617
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.16
- CADD 14.50
- PolyPhen-2 0.13
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available