E27K (p.Glu27Lys) variant of HBB (Hemoglobin subunit beta)
E27K (p.Glu27Lys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB; Hb SS disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs33950507
- ClinGen CA124838
- ClinVar RCV000016329
- ClinVar RCV000016330
- Pathogenic
- Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB; Hb SS disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.79
- MetaSVM 0.87
- CADD 25.10
- ClinVar: Pathogenic (Unstable hemoglobin disease)
- EBI: Pathogenic (in B-THAL)
- UniProt: Pathogenic (in B-THAL)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. (PMID 11425418)
- Cited in: Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with… (PMID 12144064)