Y226C (p.Tyr226Cys) variant of ABL1 (Tyrosine-protein kinase ABL1)
Y226C (p.Tyr226Cys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital heart defects and skeletal malformations syndrome; not provided; Fail. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Y226C (p.Tyr226Cys) variant details
- p.Tyr226Cys
- rs1060499547
- ClinGen CA16609342
- ClinVar RCV000445576
- ClinVar RCV000496944
- Pathogenic/Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome; not provided; Fail
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.78
- MetaLR 0.55
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Congenital heart defects and skeletal malformations syndrome; no)
- EBI: Pathogenic (in CHDSKM)
- UniProt: Pathogenic (in CHDSKM)
- Structural context available
- Cited in: Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal… (PMID 28288113)
- Cited in: ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of… (PMID 19038677)