C20C (p.Cys20Cys) variant of AXL (P30530)
C20C (p.Cys20Cys) in AXL (P30530) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
C20C (p.Cys20Cys) variant details
- p.Cys20Cys
- rs563994782
- gnomAD 19-41219452-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 7.13
- Most common in the 1KG:GWD population (allele frequency 0.0049)
- Structural context available
- Literature evidence available