D7A (p.Asp7Ala) variant of HBA1 (Hemoglobin subunit alpha)
D7A (p.Asp7Ala) 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 SAWARA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
D7A (p.Asp7Ala) variant details
- p.Asp7Ala
- rs33986902
- ClinGen CA125877
- ClinVar RCV000017150
- UniProt VAR 002723
- other
- HEMOGLOBIN SAWARA
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 0.91
- MetaLR 0.81
- MetaSVM 0.73
- SIFT 0.00
- MutPred 0.81
- ClinVar: other (HEMOGLOBIN SAWARA)
- EBI: Pathogenic (in Sawara)
- UniProt: Pathogenic (in Sawara)
- Structural context available
- Cited in: Studies of abnormal hemoglobins in western Japan. Frequency of visible hemoglobin variants, and chemical… (PMID 1241593)
- Cited in: Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine. (PMID 20980)