T5S (p.Thr5Ser) variant of HBB (Hemoglobin subunit beta)
T5S (p.Thr5Ser) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- gnomAD 11-5227007-AGT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 16.50
- Population evidence available
- Structural context available
- Literature evidence available