K7* (p.Lys7Ter) variant of BTD (Biotinidase)
K7* (p.Lys7Ter) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K7* (p.Lys7Ter) variant details
- p.Lys7Ter
- rs2064259477
- gnomAD 3-15601887-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 9.47
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available