M49T (p.Met49Thr) variant of AGXT (P21549)
M49T (p.Met49Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements and structural context.
M49T (p.Met49Thr) variant details
- p.Met49Thr
- TOPMed rs2058976084
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- ESM-1b 1.00
- AlphaMissense 0.19
- Structural context available
- AGXT complementation assay *1 B: score 1.11