E7D (p.Glu7Asp) variant of HBB (Hemoglobin subunit beta)
E7D (p.Glu7Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in SKCA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- Ensembl rs1589893600
- Likely benign
- in SKCA
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- EBI: Likely benign (in SKCA)
- UniProt: Likely benign (in SKCA)
- Structural context available