Y25D (p.Tyr25Asp) variant of HBA1 (Hemoglobin subunit alpha)
Y25D (p.Tyr25Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Luxembourg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y25D (p.Tyr25Asp) variant details
- p.Tyr25Asp
- rs281864821
- ClinGen CA276414451
- ClinVar RCV003110192
- ClinVar RCV005230457
- Pathogenic
- in Luxembourg
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.54
- AlphaMissense 0.86
- MetaLR 0.81
- MetaSVM 0.22
- CADD 23.10
- PolyPhen-2 0.92
- EBI: Pathogenic (in Luxembourg)
- UniProt: Pathogenic (in Luxembourg)
- Population evidence available
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Alpha-Thalassemia. (PMID 20301608)