E7K (p.Glu7Lys) variant of HBB (Hemoglobin subunit beta)
E7K (p.Glu7Lys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs33930165
- ClinGen CA124780
- ClinVar RCV000016251
- ClinVar RCV000016284
- other
- Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB; Hb SS disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.41
- MetaSVM -0.38
- CADD 15.90
- ClinVar: other (HEMOGLOBIN ARLINGTON PARK)
- EBI: Pathogenic (in Hb C)
- UniProt: Pathogenic (in Hb C)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low… (PMID 11001883)
- Cited in: Haemoglobin C protects against clinical Plasmodium falciparum malaria. (PMID 11713529)