A14G (p.Ala14Gly) variant of HBB (Hemoglobin subunit beta)
A14G (p.Ala14Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in J-Lens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- TOPMed rs35203747
- gnomAD rs35203747
- Uncertain significance
- in J-Lens
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance (in J-Lens)
- UniProt: Uncertain significance (in J-Lens)
- Structural context available