G46A (p.Gly46Ala) variant of AXL (P30530)
G46A (p.Gly46Ala) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G46A (p.Gly46Ala) variant details
- p.Gly46Ala
- cosmic curated COSV56565
- gnomAD rs1339361889
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.52
- SIFT 0.81
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available