C20* (p.Cys20Ter) variant of AXL (P30530)
C20* (p.Cys20Ter) in AXL (P30530) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C20* (p.Cys20Ter) variant details
- p.Cys20Ter
- gnomAD 19-41219452-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 32.00
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available