L15I (p.Leu15Ile) variant of AGXT (P21549)
L15I (p.Leu15Ile) in AGXT (P21549) is a missense 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, and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- ExAC rs768057159
- gnomAD rs768057159
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 16.80
- PolyPhen-2 0.40
- SIFT 0.14
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.946