E59K (p.Glu59Lys) variant of HOGA1 (Q86XE5)
E59K (p.Glu59Lys) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- TOPMed rs1192338945
- gnomAD rs1192338945
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.67
- MetaSVM 0.25
- CADD 23.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available