T2S (p.Thr2Ser) variant of HADHB (P55084)
T2S (p.Thr2Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD 2-26261024-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 6.59
- Population evidence available
- Structural context available
- Literature evidence available