T2K (p.Thr2Lys) variant of HADHB (P55084)
T2K (p.Thr2Lys) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T2K (p.Thr2Lys) variant details
- p.Thr2Lys
- gnomAD 2-26261025-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 5.43
- Population evidence available
- Structural context available
- Literature evidence available