A19A (p.Ala19Ala) variant of BTD (Biotinidase)
A19A (p.Ala19Ala) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs755628324
- gnomAD 3-15635496-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 12.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available