G46R (p.Gly46Arg) variant of AXL (P30530)
G46R (p.Gly46Arg) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- gnomAD 19-41220686-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.19
- CADD 22.30
- PolyPhen-2 0.86
- SIFT 0.51
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available