D100G (p.Asp100Gly) variant of HBB (Hemoglobin subunit beta)
D100G (p.Asp100Gly) 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 HEMOGLOBIN HOTEL-DIEU; Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- rs33971048
- ClinGen CA124918
- cosmic curated COSV58942
- ClinVar RCV000016388
- Pathogenic; other
- HEMOGLOBIN HOTEL-DIEU; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic; other (HEMOGLOBIN HOTEL-DIEU; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Structural context available
- Cited in: Hemoglobin Hotel-Dieu beta 99 Asp replaced by Gly (g1). A new abnormal hemoglobin with high oxygen affinity. (PMID 7204092)