M49I (p.Met49Ile) variant of AGXT (P21549)
M49I (p.Met49Ile) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M49I (p.Met49Ile) variant details
- p.Met49Ile
- Ensembl rs2058976092
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.51
- ESM-1b 0.02
- AlphaMissense 0.36
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.02
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 1.11