Y6T (p.Tyr6Thr) variant of HADHB (P55084)
Y6T (p.Tyr6Thr) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y6T (p.Tyr6Thr) variant details
- p.Tyr6Thr
- gnomAD 2-26254268-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available