L7M (p.Leu7Met) variant of ALK (ALK tyrosine kinase receptor)
L7M (p.Leu7Met) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- rs757811844
- NCI-TCGA Cosmic COSV6657
- ExAC rs757811844
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.03
- MetaLR 0.26
- MetaSVM -0.92
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available