W15C (p.Trp15Cys) variant of HBA1 (Hemoglobin subunit alpha)
W15C (p.Trp15Cys) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of alpha Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
W15C (p.Trp15Cys) variant details
- p.Trp15Cys
- rs63750367
- ClinGen CA276414368
- ClinVar RCV001810982
- ClinVar RCV001829444
- Uncertain significance
- alpha Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.05
- SIFT 0.01
- MutPred 0.74
- ClinVar: Uncertain significance (alpha Thalassemia)
- EBI: Pathogenic (in Evanston)
- UniProt: Pathogenic (in Evanston)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Alpha-Thalassemia. (PMID 20301608)