E20Q (p.Glu20Gln) variant of ATP6V0A4 (Q9HBG4)
E20Q (p.Glu20Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- ExAC rs755114471
- gnomAD rs755114471
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.88
- MetaSVM 1.00
- CADD 26.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available