A40L (p.Ala40Leu) variant of BTD (Biotinidase)
A40L (p.Ala40Leu) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A40L (p.Ala40Leu) variant details
- p.Ala40Leu
- gnomAD 3-15635555-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available