E82Q (p.Glu82Gln) variant of ATP6V0A4 (Q9HBG4)
E82Q (p.Glu82Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E82Q (p.Glu82Gln) variant details
- p.Glu82Gln
- TOPMed rs929483161
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.37
- CADD 22.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available