p.Thr2 Ile3insAla variant of HADHB (P55084)
p.Thr2 Ile3insAla in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr2 Ile3insAla variant details
- rs869300499
- gnomAD 2-26254258-A-ACTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 17.10
- Population evidence available
- Structural context available
- Literature evidence available