F34S (p.Phe34Ser) variant of HBA1 (Hemoglobin subunit alpha)
F34S (p.Phe34Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
F34S (p.Phe34Ser) variant details
- p.Phe34Ser
- rs41430445
- ClinGen CA125642
- ClinVar RCV000016970
- Ensembl rs41430445
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.93
- Structural context available
- Cited in: A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser]. (PMID 12779273)