E59A (p.Glu59Ala) variant of ATP6V0A4 (Q9HBG4)
E59A (p.Glu59Ala) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E59A (p.Glu59Ala) variant details
- p.Glu59Ala
- ExAC rs751987249
- gnomAD rs751987249
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.77
- ESM-1b 0.92
- AlphaMissense 0.51
- MetaLR 0.77
- MetaSVM 0.66
- CADD 28.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available