E9D (p.Glu9Asp) variant of ATP6V0A4 (Q9HBG4)
E9D (p.Glu9Asp) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- TOPMed rs1178453845
- gnomAD rs1178453845
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.41
- ESM-1b 0.23
- AlphaMissense 0.20
- MetaLR 0.46
- MetaSVM -0.21
- CADD 22.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available