A47A (p.Ala47Ala) variant of AXL (P30530)
A47A (p.Ala47Ala) in AXL (P30530) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A47A (p.Ala47Ala) variant details
- p.Ala47Ala
- rs1480838790
- gnomAD 19-41220691-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 14.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available