T5I (p.Thr5Ile) variant of HADHB (P55084)
T5I (p.Thr5Ile) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- gnomAD 2-26254268-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.27
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available