A116D (p.Ala116Asp) variant of HBB (Hemoglobin subunit beta)
A116D (p.Ala116Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Dominant beta-thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
A116D (p.Ala116Asp) variant details
- p.Ala116Asp
- rs35485099
- ClinGen CA125396
- ClinVar RCV000016791
- ClinVar RCV002284172
- Pathogenic
- not provided; Dominant beta-thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Pathogenic (not provided; Dominant beta-thalassemia)
- EBI: Pathogenic (in B-THAL)
- UniProt: Pathogenic (in B-THAL)
- Structural context available
- Cited in: Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a… (PMID 7693620)
- Cited in: Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with… (PMID 12144064)