C13* (p.Cys13Ter) variant of BTD (Biotinidase)
C13* (p.Cys13Ter) 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.
C13* (p.Cys13Ter) variant details
- p.Cys13Ter
- gnomAD 3-15635478-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available