T5A (p.Thr5Ala) variant of HADHB (P55084)
T5A (p.Thr5Ala) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 2-26254267-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.29
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available