G49R (p.Gly49Arg) variant of AXL (P30530)
G49R (p.Gly49Arg) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- TOPMed rs1219778701
- gnomAD rs1219778701
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.48
- CADD 26.70
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available