H123Y (p.His123Tyr) variant of ABCC9 (O60706)
H123Y (p.His123Tyr) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
H123Y (p.His123Tyr) variant details
- p.His123Tyr
- rs2541827555
- ClinGen CA384129316
- ClinVar RCV002346689
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available