D95H (p.Asp95His) variant of HBB (Hemoglobin subunit beta)
D95H (p.Asp95His) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Erythrocytosis, familial, 6; HEMOGLOBIN BARCELONA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes published literature and structural context.
D95H (p.Asp95His) variant details
- p.Asp95His
- rs33959340
- ClinGen CA124736
- ClinVar RCV000016258
- ClinVar RCV000641409
- Pathogenic; other
- Erythrocytosis, familial, 6; HEMOGLOBIN BARCELONA
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- ESM-1b 0.00
- AlphaMissense 0.75
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 6; HEMOGLOBIN BARCELONA)
- EBI: Pathogenic (in Barcelona)
- UniProt: Pathogenic (in Barcelona)
- Structural context available
- Cited in: Structural and functional studies of hemoglobin Barcelona (alpha 2 beta 2 94 Asp (FG1) replaced by His). Consequences… (PMID 7097767)