A40T (p.Ala40Thr) variant of AGXT (P21549)
A40T (p.Ala40Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- TOPMed rs1235145069
- gnomAD rs1235145069
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 23.90
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.637