G49V (p.Gly49Val) variant of AXL (P30530)
G49V (p.Gly49Val) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G49V (p.Gly49Val) variant details
- p.Gly49Val
- gnomAD 19-41220696-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.74
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available