F44V (p.Phe44Val) variant of HBA1 (Hemoglobin subunit alpha)
F44V (p.Phe44Val) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN TORINO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
F44V (p.Phe44Val) variant details
- p.Phe44Val
- rs35511459
- ClinGen CA125911
- ClinVar RCV000017169
- Ensembl rs35511459
- other
- HEMOGLOBIN TORINO
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.00
- MutPred 0.95
- ClinVar: other (HEMOGLOBIN TORINO)
- EBI: Pathogenic (in Hirosaki)
- UniProt: Pathogenic (in Hirosaki)
- Structural context available
- Cited in: Haemolytic anaemia due to haemoglobin Torino. (PMID 5453914)
- Cited in: Haemoglobin Torino--alpha-43 (CD1) phenylalanine replaced by valine. (PMID 5643522)