A40C (p.Ala40Cys) variant of BTD (Biotinidase)
A40C (p.Ala40Cys) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A40C (p.Ala40Cys) variant details
- p.Ala40Cys
- gnomAD 3-15635556-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 26.30
- Population evidence available
- Structural context available
- Literature evidence available