E28Q (p.Glu28Gln) variant of ATP6V0A4 (Q9HBG4)
E28Q (p.Glu28Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD rs1205264414
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.78
- MetaSVM 0.63
- CADD 23.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available