L11F (p.Leu11Phe) variant of HADHB (P55084)
L11F (p.Leu11Phe) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- gnomAD 2-26261042-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 7.01
- Population evidence available
- Structural context available
- Literature evidence available