S45Y (p.Ser45Tyr) variant of HBD (Hemoglobin subunit delta)
S45Y (p.Ser45Tyr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S45Y (p.Ser45Tyr) variant details
- p.Ser45Tyr
- ExAC rs747164859
- TOPMed rs747164859
- gnomAD rs747164859
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.86
- MetaSVM 0.40
- CADD 15.40
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available