E102D (p.Glu102Asp) variant of HBB (Hemoglobin subunit beta)
E102D (p.Glu102Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes published literature and structural context.
E102D (p.Glu102Asp) variant details
- p.Glu102Asp
- rs35209591
- ClinGen CA125112
- ClinVar RCV000016557
- ClinVar RCV000641582
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- ESM-1b 0.00
- AlphaMissense 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in Potomac)
- UniProt: Pathogenic (in Potomac)
- Structural context available
- Cited in: Hb I-High Wycombe [beta 59(E3)Lys----Glu] in a woman of Malian origin. (PMID 3114176)
- Cited in: Hb Potomac (101 Glu replaced by Asp): speculations on placental oxygen transport in carriers of high-affinity… (PMID 563749)