S4F (p.Ser4Phe) variant of HBA1 (Hemoglobin subunit alpha)
S4F (p.Ser4Phe) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN DOUALA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- rs35850071
- ClinGen CA126003
- ClinVar RCV000017224
- Ensembl rs35850071
- other
- HEMOGLOBIN DOUALA
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.77
- MetaLR 0.89
- MetaSVM 0.99
- SIFT 0.01
- MutPred 0.49
- ClinVar: other (HEMOGLOBIN DOUALA)
- UniProt: Other
- Structural context available
- Cited in: Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb… (PMID 11570726)