I46T (p.Ile46Thr) variant of AGXT (P21549)
I46T (p.Ile46Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- ExAC rs773705695
- gnomAD rs773705695
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.58
- ESM-1b 0.29
- AlphaMissense 0.09
- CADD 23.40
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.968