S28S (p.Ser28Ser) variant of BTD (Biotinidase)
S28S (p.Ser28Ser) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs144654790
- gnomAD 3-15635523-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0898
- CADD 1.29
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available