L11H (p.Leu11His) variant of HADHB (P55084)
L11H (p.Leu11His) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L11H (p.Leu11His) variant details
- p.Leu11His
- gnomAD 2-26261043-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.094
- CADD 1.89
- Population evidence available
- Structural context available
- Literature evidence available