R5* (p.Arg5Ter) variant of BTD (Biotinidase)
R5* (p.Arg5Ter) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- rs143058480
- gnomAD 3-15601893-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.91
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available