P12L (p.Pro12Leu) variant of AXL (P30530)
P12L (p.Pro12Leu) in AXL (P30530) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- 1000Genomes rs563334837
- ExAC rs563334837
- TOPMed rs563334837
- gnomAD rs563334837
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.09
- CADD 5.88
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.01)
- Structural context available