C16F (p.Cys16Phe) variant of AXL (P30530)
C16F (p.Cys16Phe) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C16F (p.Cys16Phe) variant details
- p.Cys16Phe
- gnomAD 19-41219439-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.36
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available