G30E (p.Gly30Glu) variant of ATP6V0A4 (Q9HBG4)
G30E (p.Gly30Glu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- TOPMed rs987993295
- gnomAD rs987993295
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 1.00
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available