L13M (p.Leu13Met) variant of ALK (ALK tyrosine kinase receptor)
L13M (p.Leu13Met) in ALK (ALK tyrosine kinase receptor) 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 0.22 / 1. The record also includes population frequency data and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- ExAC rs749730757
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.08
- MetaLR 0.28
- MetaSVM -0.79
- CADD 21.60
- PolyPhen-2 0.17
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available