L50I (p.Leu50Ile) variant of AXL (P30530)
L50I (p.Leu50Ile) in AXL (P30530) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L50I (p.Leu50Ile) variant details
- p.Leu50Ile
- ESP rs369684238
- ExAC rs369684238
- TOPMed rs369684238
- gnomAD rs369684238
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available