A2T (p.Ala2Thr) variant of AGXT (P21549)
A2T (p.Ala2Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 2-240868869-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.02
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 1.28
- Literature evidence available