I60M (p.Ile60Met) variant of AGXT (P21549)
I60M (p.Ile60Met) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I60M (p.Ile60Met) variant details
- p.Ile60Met
- TOPMed rs983369223
- gnomAD rs983369223
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 24.00
- Most common in the East Asian population (allele frequency 0.00021)
- Structural context available
- AGXT complementation assay *1 B: score 0.683