G511R (p.Gly511Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
G511R (p.Gly511Arg) 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 Congenital heart defects and skeletal malformations syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G511R (p.Gly511Arg) variant details
- p.Gly511Arg
- rs1831433170
- ClinGen CA375251790
- ClinVar RCV001265619
- ClinVar RCV004560361
- Pathogenic
- Congenital heart defects and skeletal malformations syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.56
- MetaLR 0.44
- MetaSVM -0.11
- CADD 31.00
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Pathogenic (Congenital heart defects and skeletal malformations syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations… (PMID 32643838)