Q114E (p.Gln114Glu) variant of ATP6V0A4 (Q9HBG4)
Q114E (p.Gln114Glu) 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.
Q114E (p.Gln114Glu) variant details
- p.Gln114Glu
- TOPMed rs1179541056
- gnomAD rs1179541056
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- ESM-1b 0.46
- AlphaMissense 0.11
- MetaLR 0.42
- MetaSVM -0.54
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available