G105A (p.Gly105Ala) variant of ATP6V0A4 (Q9HBG4)
G105A (p.Gly105Ala) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar 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 0.23 / 1. The record also includes population frequency data and structural context.
G105A (p.Gly105Ala) variant details
- p.Gly105Ala
- ExAC rs779102605
- TOPMed rs779102605
- gnomAD rs779102605
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.30
- MetaSVM -0.83
- CADD 14.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available