I20I (p.Ile20Ile) variant of AGXT (P21549)
I20I (p.Ile20Ile) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I20I (p.Ile20Ile) variant details
- p.Ile20Ile
- gnomAD 2-240868925-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 3.84
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.795
- Literature evidence available