E7G (p.Glu7Gly) variant of HBB (Hemoglobin subunit beta)
E7G (p.Glu7Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SKCA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- 1000Genomes rs334
- ESP rs334
- ExAC rs334
- gnomAD rs334
- Pathogenic
- in SKCA
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- ESM-1b 1.00
- AlphaMissense 0.13
- EBI: Pathogenic (in SKCA)
- UniProt: Pathogenic (in SKCA)
- Structural context available