Q114R (p.Gln114Arg) variant of ATP6V0A4 (Q9HBG4)
Q114R (p.Gln114Arg) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
Q114R (p.Gln114Arg) variant details
- p.Gln114Arg
- TOPMed rs1431045681
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- ESM-1b 0.35
- AlphaMissense 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available