L4T (p.Leu4Thr) variant of HADHB (P55084)
L4T (p.Leu4Thr) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L4T (p.Leu4Thr) variant details
- p.Leu4Thr
- gnomAD 2-26254262-T-TAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 26.30
- Population evidence available
- Structural context available
- Literature evidence available