E54V (p.Glu54Val) variant of ATP6V0A4 (Q9HBG4)
E54V (p.Glu54Val) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E54V (p.Glu54Val) variant details
- p.Glu54Val
- gnomAD rs1051958411
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.85
- MetaSVM 0.95
- CADD 32.00
- Population evidence available
- Structural context available