P27L (p.Pro27Leu) variant of AXL (P30530)
P27L (p.Pro27Leu) in AXL (P30530) is a missense change. Clinical records from ClinVar, EBI, 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 0.16 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs1000076660
- ClinGen CA308516381
- ClinVar RCV004326366
- TOPMed rs1000076660
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.10
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available