G46C (p.Gly46Cys) variant of AXL (P30530)
G46C (p.Gly46Cys) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- gnomAD 19-41220686-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available