F43Y (p.Phe43Tyr) variant of HBD (Hemoglobin subunit delta)
F43Y (p.Phe43Tyr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
F43Y (p.Phe43Tyr) variant details
- p.Phe43Tyr
- ExAC rs755109846
- gnomAD rs755109846
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.00
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available