T39N (p.Thr39Asn) variant of HBA1 (Hemoglobin subunit alpha)
T39N (p.Thr39Asn) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T39N (p.Thr39Asn) variant details
- p.Thr39Asn
- TOPMed rs281860683
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.45
- MetaLR 0.72
- MetaSVM 0.38
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.52
- Population evidence available
- Structural context available