I1171T (p.Ile1171Thr) variant of ALK (ALK tyrosine kinase receptor)
I1171T (p.Ile1171Thr) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuroblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
I1171T (p.Ile1171Thr) variant details
- p.Ile1171Thr
- rs1057519698
- Civic 527
- ClinGen CA346462880
- cosmic curated COSV66564
- Pathogenic
- Neuroblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.98
- MetaLR 0.56
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Pathogenic (Neuroblastoma)
- EBI: Pathogenic (in NBLST3)
- UniProt: Pathogenic (in NBLST3)
- Structural context available
- Cited in: The ALK inhibitor ceritinib overcomes crizotinib resistance in non-small cell lung cancer. (PMID 24675041)
- Cited in: Two novel ALK mutations mediate acquired resistance to the next-generation ALK inhibitor alectinib. (PMID 25228534)