A14H (p.Ala14His) variant of HADHB (P55084)
A14H (p.Ala14His) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A14H (p.Ala14His) variant details
- p.Ala14His
- gnomAD 2-26254292-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available