I46M (p.Ile46Met) variant of AGXT (P21549)
I46M (p.Ile46Met) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I46M (p.Ile46Met) variant details
- p.Ile46Met
- gnomAD 2-240869003-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.16
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.968
- Literature evidence available