E7V (p.Glu7Val) variant of HBB (Hemoglobin subunit beta)
E7V (p.Glu7Val) 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.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- rs334
- ClinGen CA125138
- ClinVar RCV000016286
- ClinVar RCV000016573
- other
- Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB; Hb SS disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.07
- MetaSVM -0.60
- CADD 13.10
- ClinVar: other (HEMOGLOBIN JAMAICA PLAIN)
- EBI: Pathogenic (in SKCA)
- UniProt: Pathogenic (in SKCA)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Hemoglobin S/O(Arab): thirteen new cases and review of the literature. (PMID 10203101)
- Cited in: Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. 1910. (PMID 11501714)