I46I (p.Ile46Ile) variant of AGXT (P21549)
I46I (p.Ile46Ile) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I46I (p.Ile46Ile) variant details
- p.Ile46Ile
- rs200488482
- gnomAD 2-240869003-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0829
- CADD 0.31
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- AGXT complementation assay *1 B: score 0.968
- Literature evidence available