E122Q (p.Glu122Gln) variant of HBB (Hemoglobin subunit beta)
E122Q (p.Glu122Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HBB-related disorder; Beta-thalassemia HBB/LCRB; METHEMOGLOBINEMIA, BETA TYPE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E122Q (p.Glu122Gln) variant details
- p.Glu122Gln
- rs33946267
- ClinGen CA124824
- cosmic curated COSV58941
- ClinVar RCV000016317
- other
- HBB-related disorder; Beta-thalassemia HBB/LCRB; METHEMOGLOBINEMIA, BETA TYPE
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.78
- MetaSVM 0.28
- CADD 19.40
- ClinVar: other (HEMOGLOBIN D (AGRI))
- EBI: Pathogenic (in D-Los Angeles/D-Punjab/D-Portugal/D-Chicago/D-Oak Ridge)
- UniProt: Pathogenic (in D-Los Angeles/D-Punjab/D-Portugal/D-Chicago/D-Oak Ridge)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid… (PMID 11570725)
- Cited in: Three varieties of human haemoglobin D. (PMID 13590135)