E29D (p.Glu29Asp) variant of HOGA1 (Q86XE5)
E29D (p.Glu29Asp) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- TOPMed rs1453912951
- gnomAD rs1453912951
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.54
- MetaSVM -0.50
- CADD 10.77
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available