D7V (p.Asp7Val) variant of HBA1 (Hemoglobin subunit alpha)
D7V (p.Asp7Val) 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 FERNDOWN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
D7V (p.Asp7Val) variant details
- p.Asp7Val
- rs33986902
- ClinGen CA125721
- ClinVar RCV000017019
- Ensembl rs33986902
- other
- HEMOGLOBIN FERNDOWN
- 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 FERNDOWN)
- EBI: Pathogenic (in Ferndown)
- UniProt: Pathogenic (in Ferndown)
- Structural context available
- Cited in: Haemoglobin Ferndown (alpha 6 [A4] aspartic acid replaced by valine). (PMID 7238857)