A18P (p.Ala18Pro) variant of HADHB (P55084)
A18P (p.Ala18Pro) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- gnomAD 2-26254303-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available