T9S (p.Thr9Ser) variant of AGXT (P21549)
T9S (p.Thr9Ser) 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 0.12 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T9S (p.Thr9Ser) variant details
- p.Thr9Ser
- 1000Genomes rs115014558
- ESP rs115014558
- ExAC rs115014558
- TOPMed rs115014558
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.06