G30E (p.Gly30Glu) variant of HOGA1 (Q86XE5)
G30E (p.Gly30Glu) in HOGA1 (Q86XE5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- ExAC rs759795758
- TOPMed rs759795758
- gnomAD rs759795758
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.68
- MetaSVM 0.30
- CADD 21.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available