G108D (p.Gly108Asp) variant of HBB (Hemoglobin subunit beta)
G108D (p.Gly108Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of beta Thalassemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
G108D (p.Gly108Asp) variant details
- p.Gly108Asp
- rs35519485
- ClinGen CA217112823
- ClinVar RCV003557551
- Ensembl rs35519485
- Likely pathogenic
- beta Thalassemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (beta Thalassemia; not provided)
- EBI: Likely pathogenic (in Burke)
- UniProt: Likely pathogenic (in Burke)
- Structural context available