D7Y (p.Asp7Tyr) variant of HBA1 (Hemoglobin subunit alpha)
D7Y (p.Asp7Tyr) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D7Y (p.Asp7Tyr) variant details
- p.Asp7Tyr
- rs281864806
- UniProt VAR 002727
- Ensembl rs281864806
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.02
- SIFT 0.00
- MutPred 0.85
- ClinVar: Uncertain significance (not specified)
- EBI: Benign (in Woodville)
- UniProt: Benign (in Woodville)
- Structural context available
- Cited in: Hemoglobin Woodville: alpha (2)6(A4) aspartic acid----tyrosine. (PMID 3754246)