E8del (p.Glu8del) variant of HBB (Hemoglobin subunit beta)

Name: HBB E8del (p.Glu8del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

E8del (p.Glu8del) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.

E8del (p.Glu8del) variant details

rs63750928
gnomAD 11-5226997-TCTC-T
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.458
CADD 15.40
Most common in the 1KG:CHB population (allele frequency 0.015)
Structural context available
Literature evidence available