p.Thr2dup variant of HADHB (P55084)
p.Thr2dup in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr2dup variant details
- gnomAD 2-26254257-G-GACA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available