L6M (p.Leu6Met) variant of AGXT (P21549)
L6M (p.Leu6Met) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD rs1486834101
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.34
- ESM-1b 0.07
- AlphaMissense 0.13
- CADD 17.00
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.999