Y25H (p.Tyr25His) variant of HBA1 (Hemoglobin subunit alpha)
Y25H (p.Tyr25His) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN LUXEMBOURG. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
Y25H (p.Tyr25His) variant details
- p.Tyr25His
- rs281864821
- UniProt VAR 002746
- Ensembl rs281864821
- other
- HEMOGLOBIN LUXEMBOURG
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.86
- MetaLR 0.81
- MetaSVM 0.22
- SIFT 0.00
- MutPred 0.74
- ClinVar: other (HEMOGLOBIN LUXEMBOURG)
- EBI: Pathogenic (in Luxembourg)
- UniProt: Pathogenic (in Luxembourg)
- Structural context available
- Cited in: Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant. (PMID 2599879)