D53E (p.Asp53Glu) variant of HOGA1 (Q86XE5)
D53E (p.Asp53Glu) 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, published literature, and structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- gnomAD 10-97584862-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.93
- MetaSVM 0.98
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available