V506M (p.Val506Met) variant of ABL1 (Tyrosine-protein kinase ABL1)
V506M (p.Val506Met) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Congenital heart defects and skeletal malformations syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
V506M (p.Val506Met) variant details
- p.Val506Met
- rs1831432715
- ClinGen CA375251754
- ClinVar RCV001265618
- ClinVar RCV004560361
- Pathogenic
- not provided; Congenital heart defects and skeletal malformations syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.94
- MetaLR 0.62
- MetaSVM 0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Congenital heart defects and skeletal malformations syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations… (PMID 32643838)