S84G (p.Ser84Gly) variant of ATP6V0A4 (Q9HBG4)
S84G (p.Ser84Gly) 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 0.16 / 1. The record also includes population frequency data and structural context.
S84G (p.Ser84Gly) variant details
- p.Ser84Gly
- ExAC rs764857690
- TOPMed rs764857690
- gnomAD rs764857690
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.43
- MetaSVM -0.72
- CADD 4.97
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available