E59D (p.Glu59Asp) variant of HOGA1 (Q86XE5)
E59D (p.Glu59Asp) in HOGA1 (Q86XE5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E59D (p.Glu59Asp) variant details
- p.Glu59Asp
- rs1487446990
- gnomAD rs1487446990
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.69
- MetaSVM 0.15
- CADD 20.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available