E69Q (p.Glu69Gln) variant of ATP6V0A4 (Q9HBG4)
E69Q (p.Glu69Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- TOPMed rs1354681809
- gnomAD rs1354681809
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.59
- MetaSVM 0.06
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available