G33V (p.Gly33Val) variant of ATP6V0A4 (Q9HBG4)
G33V (p.Gly33Val) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- ExAC rs745618366
- TOPMed rs745618366
- gnomAD rs745618366
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.81
- MetaSVM 0.77
- CADD 23.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available