M45T (p.Met45Thr) variant of AGXT (P21549)
M45T (p.Met45Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M45T (p.Met45Thr) variant details
- p.Met45Thr
- gnomAD 2-240868999-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- AGXT complementation assay *2 B: score 1.03
- Literature evidence available