Y54H (p.Tyr54His) variant of AGXT (P21549)
Y54H (p.Tyr54His) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements and structural context.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- TOPMed rs1422349310
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- ESM-1b 1.00
- AlphaMissense 0.19
- Structural context available
- AGXT complementation assay *2 B: score 0.94