A433T (p.Ala433Thr) variant of ABL1 (Tyrosine-protein kinase ABL1)
A433T (p.Ala433Thr) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital heart defects and skeletal malformations syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
A433T (p.Ala433Thr) variant details
- p.Ala433Thr
- rs1831388695
- ClinGen CA375251040
- ClinVar RCV001263086
- ClinVar RCV003660878
- Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.94
- MetaLR 0.62
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.71
- ClinVar: Likely pathogenic (Congenital heart defects and skeletal malformations syndrome; no)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available