A14T (p.Ala14Thr) variant of HBB (Hemoglobin subunit beta)
A14T (p.Ala14Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs766266418
- ClinGen CA379274909
- ClinVar RCV001289993
- ExAC rs766266418
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Benign (in J-Lens)
- UniProt: Benign (in J-Lens)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)