Y36C (p.Tyr36Cys) variant of HBB (Hemoglobin subunit beta)
Y36C (p.Tyr36Cys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
Y36C (p.Tyr36Cys) variant details
- p.Tyr36Cys
- rs35857380
- ClinGen CA379274600
- ClinVar RCV001078303
- Ensembl rs35857380
- Pathogenic
- beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- ESM-1b 1.00
- AlphaMissense 0.79
- ClinVar: Pathogenic (beta Thalassemia)
- EBI: Pathogenic (in Philly)
- UniProt: Pathogenic (in Philly)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)