I20L (p.Ile20Leu) variant of AGXT (P21549)
I20L (p.Ile20Leu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes experimental measurements and structural context.
I20L (p.Ile20Leu) variant details
- p.Ile20Leu
- TOPMed rs1400902861
- gnomAD rs1400902861
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- ESM-1b 0.45
- AlphaMissense 0.08
- Structural context available
- AGXT complementation assay *1 B: score 0.795