E509K (p.Glu509Lys) variant of ABL1 (Tyrosine-protein kinase ABL1)
E509K (p.Glu509Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
E509K (p.Glu509Lys) variant details
- p.Glu509Lys
- rs1831433011
- ClinGen CA375251776
- cosmic curated COSV59333
- ClinVar RCV001263088
- Pathogenic/Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.88
- MetaLR 0.39
- MetaSVM -0.27
- PolyPhen-2 0.80
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Congenital heart defects and skeletal malformations syndrome; no)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available