W8* (p.Trp8Ter) variant of ALK (ALK tyrosine kinase receptor)
W8* (p.Trp8Ter) in ALK (ALK tyrosine kinase receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
W8* (p.Trp8Ter) variant details
- p.Trp8Ter
- ExAC rs749905243
- gnomAD rs749905243
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 38.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available