F34Y (p.Phe34Tyr) variant of HBA1 (Hemoglobin subunit alpha)
F34Y (p.Phe34Tyr) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F34Y (p.Phe34Tyr) variant details
- p.Phe34Tyr
- gnomAD 16-173130-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.80
- MetaLR 0.96
- MetaSVM 1.11
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5.3e-06)
- Structural context available
- Literature evidence available