Y54C (p.Tyr54Cys) variant of HOGA1 (Q86XE5)
Y54C (p.Tyr54Cys) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- TOPMed rs985573876
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.90
- MetaSVM 1.01
- CADD 27.90
- Structural context available