M57I (p.Met57Ile) variant of AGXT (P21549)
M57I (p.Met57Ile) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M57I (p.Met57Ile) variant details
- p.Met57Ile
- gnomAD rs1258238960
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.67
- ESM-1b 0.82
- AlphaMissense 0.72
- CADD 26.30
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.365