T42A (p.Thr42Ala) variant of HBA1 (Hemoglobin subunit alpha)
T42A (p.Thr42Ala) 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 Miyano. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- rs281860654
- ClinGen CA393993315
- ClinVar RCV001000801
- Ensembl rs281860654
- Uncertain significance
- in Miyano
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.75
- MetaLR 0.84
- MetaSVM 0.71
- SIFT 0.00
- MutPred 0.73
- EBI: Variant of uncertain significance (in Miyano)
- UniProt: Uncertain significance (in Miyano)
- Structural context available