L50F (p.Leu50Phe) variant of AXL (P30530)
L50F (p.Leu50Phe) in AXL (P30530) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- rs369684238
- ClinGen CA9457863
- cosmic curated COSV56575
- ClinVar RCV002113945
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- CADD 17.70
- PolyPhen-2 0.26
- SIFT 0.09
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0049)
- Structural context available