P27H (p.Pro27His) variant of AXL (P30530)
P27H (p.Pro27His) 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 0.15 / 1. The record also includes population frequency data and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- NCI-TCGA TCGA novel
- TOPMed rs1000076660
- gnomAD rs1000076660
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.08
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available