C5Y (p.Cys5Tyr) variant of AXL (P30530)
C5Y (p.Cys5Tyr) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
C5Y (p.Cys5Tyr) variant details
- p.Cys5Tyr
- ExAC rs746493416
- gnomAD rs746493416
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.12
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available