G49E (p.Gly49Glu) variant of AXL (P30530)
G49E (p.Gly49Glu) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- ExAC rs775741490
- gnomAD rs775741490
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 23.40
- PolyPhen-2 0.31
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available