A2E (p.Ala2Glu) variant of AXL (P30530)
A2E (p.Ala2Glu) in AXL (P30530) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- 1000Genomes rs10411373
- ExAC rs10411373
- TOPMed rs10411373
- gnomAD rs10411373
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0669
- REVEL 0.06
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available