P7T (p.Pro7Thr) variant of HADHB (P55084)
P7T (p.Pro7Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 2-26254273-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.29
- CADD 0.93
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available