T40I (p.Thr40Ile) variant of HBA1 (Hemoglobin subunit alpha)
T40I (p.Thr40Ile) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- gnomAD 16-173148-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.09
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available