H21Y (p.His21Tyr) variant of HBA1 (Hemoglobin subunit alpha)
H21Y (p.His21Tyr) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN NECKER ENFANTS-MALADES. The record also includes variant effect predictions, published literature, and structural context.
H21Y (p.His21Tyr) variant details
- p.His21Tyr
- Ensembl rs281864814
- other
- HEMOGLOBIN NECKER ENFANTS-MALADES
- Missense
- MetaLR 0.74
- MetaSVM 0.12
- SIFT 0.07
- ClinVar: other (HEMOGLOBIN NECKER ENFANTS-MALADES)
- UniProt: Other (in Hobart)
- Structural context available
- Cited in: A silent hemoglobin variant: hemoglobin necker enfants-malades alpha 20 (B1) His leads to Tyr. (PMID 7390863)