E8G (p.Glu8Gly) variant of HBB (Hemoglobin subunit beta)
E8G (p.Glu8Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- rs34387455
- ClinGen CA124863
- ClinVar RCV000016353
- ClinVar RCV000756237
- Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.86
- MetaSVM 0.95
- CADD 25.50
- ClinVar: Likely benign (not specified; not provided)
- EBI: Benign (in G-San Jose)
- UniProt: Benign (in G-San Jose)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Combinations of hemoglobin G, hemoglobin S and thalassemia occurring in one family. (PMID 13403987)
- Cited in: Characterization of a chemical abnormality in hemoglobin G. (PMID 13714317)