T2I (p.Thr2Ile) variant of HADHB (P55084)
T2I (p.Thr2Ile) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- gnomAD 2-26254257-G-GAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 28.40
- Population evidence available
- Structural context available
- Literature evidence available