G33E (p.Gly33Glu) variant of ATP6V0A4 (Q9HBG4)
G33E (p.Gly33Glu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G33E (p.Gly33Glu) variant details
- p.Gly33Glu
- ExAC rs745618366
- TOPMed rs745618366
- gnomAD rs745618366
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.83
- MetaSVM 0.83
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available