G17C (p.Gly17Cys) variant of HBB (Hemoglobin subunit beta)
G17C (p.Gly17Cys) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- TOPMed rs63751285
- gnomAD rs63751285
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- ESM-1b 1.00
- AlphaMissense 0.28
- Structural context available