A40V (p.Ala40Val) variant of BTD (Biotinidase)
A40V (p.Ala40Val) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- gnomAD 3-15635557-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available