A28D (p.Ala28Asp) variant of HBB (Hemoglobin subunit beta)
A28D (p.Ala28Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- rs33954632
- ClinGen CA125229
- cosmic curated COSV10965
- ClinVar RCV000016638
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.97
- CADD 27.10
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in Volga/Drenthe)
- UniProt: Pathogenic (in Volga/Drenthe)
- Population evidence available
- Structural context available
- Cited in: Hb Matera [beta 55(D6)Met----Lys]: a new unstable hemoglobin variant in an Italian family. (PMID 2384314)
- Cited in: Enzymatic antioxidative defence of erythrocytes in an Italian family with Hb Volga or alpha 2 beta 2 27 (B9) Ala----Asp. (PMID 3240605)