R48Q (p.Arg48Gln) variant of AXL (P30530)
R48Q (p.Arg48Gln) 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 0.44 / 1. The record also includes population frequency data and structural context.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- 1000Genomes rs200598880
- ExAC rs200598880
- TOPMed rs200598880
- gnomAD rs200598880
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.20
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available