I4T (p.Ile4Thr) variant of ALK (ALK tyrosine kinase receptor)
I4T (p.Ile4Thr) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- Ensembl rs2148444177
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.23
- MetaSVM -0.93
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available