G13E (p.Gly13Glu) variant of HOGA1 (Q86XE5)
G13E (p.Gly13Glu) 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 0.45 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- gnomAD rs1056874645
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.27
- ESM-1b 0.76
- AlphaMissense 0.10
- MetaLR 0.72
- MetaSVM 0.49
- CADD 17.93
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available