Q48H (p.Gln48His) variant of ATP6V0A4 (Q9HBG4)
Q48H (p.Gln48His) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
Q48H (p.Gln48His) variant details
- p.Gln48His
- TOPMed rs1807248659
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- ESM-1b 1.00
- AlphaMissense 0.79
- Structural context available