A41M (p.Ala41Met) variant of BTD (Biotinidase)
A41M (p.Ala41Met) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A41M (p.Ala41Met) variant details
- p.Ala41Met
- gnomAD 3-15635559-T-TATG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available