W99R (p.Trp99Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
W99R (p.Trp99Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
W99R (p.Trp99Arg) variant details
- p.Trp99Arg
- rs1830947813
- ClinGen CA375257804
- ClinVar RCV001269278
- Ensembl rs1830947813
- Likely pathogenic
- Congenital heart defects and skeletal malformations syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Congenital heart defects and skeletal malformations syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available