G254R (p.Gly254Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
G254R (p.Gly254Arg) 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 0.83 / 1. The record also includes population frequency data and structural context.
G254R (p.Gly254Arg) variant details
- p.Gly254Arg
- rs1831099962
- ClinGen CA375263307
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV5932
- Pathogenic/Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.84
- MetaLR 0.83
- MetaSVM 0.91
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital heart defects and skeletal malformations syndrome; no)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available