E292V (p.Glu292Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
E292V (p.Glu292Val) 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. The record also includes structural context.
E292V (p.Glu292Val) variant details
- p.Glu292Val
- rs2490715483
- ClinGen CA375249260
- ClinVar RCV003148148
- Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome
- Missense
- ClinVar: Likely pathogenic (Congenital heart defects and skeletal malformations syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available