Y54S (p.Tyr54Ser) variant of HOGA1 (Q86XE5)
Y54S (p.Tyr54Ser) 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.
Y54S (p.Tyr54Ser) variant details
- p.Tyr54Ser
- TOPMed rs985573876
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.89
- MetaSVM 0.97
- CADD 27.30
- Structural context available