I44I (p.Ile44Ile) variant of AXL (P30530)
I44I (p.Ile44Ile) in AXL (P30530) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I44I (p.Ile44Ile) variant details
- p.Ile44Ile
- rs1305030495
- gnomAD 19-41220682-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 14.40
- Most common in the East Asian population (allele frequency 0.0003)
- Structural context available
- Literature evidence available