A27T (p.Ala27Thr) variant of HBA1 (Hemoglobin subunit alpha)
A27T (p.Ala27Thr) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in Campinas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs41467944
- ClinGen CA276414463
- ClinVar RCV000985730
- ClinVar RCV003235439
- Uncertain significance
- in Campinas
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.13
- MetaLR 0.70
- MetaSVM 0.04
- SIFT 0.01
- MutPred 0.92
- EBI: Variant of uncertain significance (in Campinas)
- UniProt: Uncertain significance (in Campinas)
- Structural context available