T5S (p.Thr5Ser) variant of HADHB (P55084)
T5S (p.Thr5Ser) 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.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- gnomAD 2-26254267-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.24
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available