C20F (p.Cys20Phe) variant of AXL (P30530)
C20F (p.Cys20Phe) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C20F (p.Cys20Phe) variant details
- p.Cys20Phe
- gnomAD 19-41219451-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.22
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available