G60D (p.Gly60Asp) variant of HBA1 (Hemoglobin subunit alpha)
G60D (p.Gly60Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Erythrocytosis, familial, 7; Heinz body anemia; Hemoglobin H disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- rs28928878
- ClinGen CA125949
- ClinVar RCV000017194
- ClinVar RCV000022600
- Pathogenic
- Erythrocytosis, familial, 7; Heinz body anemia; Hemoglobin H disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.87
- MetaLR 0.93
- MetaSVM 1.01
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.36
- ClinVar: Pathogenic (Erythrocytosis, familial, 7; Heinz body anemia; Hemoglobin H dis)
- EBI: Pathogenic (in Adana)
- UniProt: Pathogenic (in Adana)
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with… (PMID 8237999)
- Cited in: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis… (PMID 25052315)