M23L (p.Met23Leu) variant of ALK (ALK tyrosine kinase receptor)
M23L (p.Met23Leu) in ALK (ALK tyrosine kinase receptor) 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 0.10 / 1. The record also includes population frequency data and structural context.
M23L (p.Met23Leu) variant details
- p.Met23Leu
- TOPMed rs987433112
- gnomAD rs987433112
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.096
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -1.01
- CADD 7.47
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available