D100E (p.Asp100Glu) variant of HBB (Hemoglobin subunit beta)
D100E (p.Asp100Glu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D100E (p.Asp100Glu) variant details
- p.Asp100Glu
- rs34013622
- ClinGen CA217113480
- ClinVar RCV001175128
- ClinVar RCV003226436
- Conflicting interpretations
- not specified; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.89
- ESM-1b 0.25
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.93
- CADD 22.70
- ClinVar: Conflicting classifications of pathogenicity (not specified; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Hb Coimbra or alpha 2 beta (2)99(G1)Asp----Glu, a newly discovered highoxygen affinity variant. (PMID 1814856)