G17S (p.Gly17Ser) variant of HBB (Hemoglobin subunit beta)
G17S (p.Gly17Ser) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- cosmic curated COSV10741
- TOPMed rs63751285
- gnomAD rs63751285
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.67
- CADD 5.92
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available