F44L (p.Phe44Leu) variant of HBA1 (Hemoglobin subunit alpha)
F44L (p.Phe44Leu) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of alpha Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- rs41491146
- ClinGen CA276414606
- ClinVar RCV000017048
- UniProt VAR 002758
- Likely pathogenic
- alpha Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 1.01
- CADD 24.30
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Likely pathogenic (alpha Thalassemia)
- EBI: Benign (in Hirosaki)
- UniProt: Benign (in Hirosaki)
- Population evidence available
- Structural context available
- Cited in: Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant. (PMID 1182166)
- Cited in: Characterization of Hb Ube-4: alpha 116 (GH4) Glu yield Ala. (PMID 640856)