I60I (p.Ile60Ile) variant of AGXT (P21549)
I60I (p.Ile60Ile) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I60I (p.Ile60Ile) variant details
- p.Ile60Ile
- rs983369223
- gnomAD 2-240869184-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- AGXT complementation assay *1 B: score 0.683
- Literature evidence available