T315I (p.Thr315Ile) variant of ABL1 (Tyrosine-protein kinase ABL1)
T315I (p.Thr315Ile) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic; association in the context of Chronic myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
T315I (p.Thr315Ile) variant details
- p.Thr315Ile
- rs121913459
- ClinGen CA122575
- cosmic curated COSV59323
- ClinVar RCV000013459
- Likely pathogenic; association
- Chronic myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic; association (Chronic myeloid leukemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Structural mechanism for STI-571 inhibition of abelson tyrosine kinase. (PMID 10988075)
- Cited in: Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. (PMID 11423618)