T9I (p.Thr9Ile) variant of AGXT (P21549)
T9I (p.Thr9Ile) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- 1000Genomes rs115014558
- ESP rs115014558
- ExAC rs115014558
- TOPMed rs115014558
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 5.87
- PolyPhen-2 0.02
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- AGXT complementation assay *1 B: score 1.06