T13L (p.Thr13Leu) variant of HADHB (P55084)
T13L (p.Thr13Leu) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T13L (p.Thr13Leu) variant details
- p.Thr13Leu
- rs760042114
- gnomAD 2-26254287-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available