R28S (p.Arg28Ser) variant of AXL (P30530)
R28S (p.Arg28Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- cosmic curated COSV99997
- TOPMed rs1336744611
- gnomAD rs1336744611
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available