L12* (p.Leu12Ter) variant of BTD (Biotinidase)
L12* (p.Leu12Ter) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L12* (p.Leu12Ter) variant details
- p.Leu12Ter
- rs1219115206
- gnomAD 3-15631489-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 33.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available