Y16Y (p.Tyr16Tyr) variant of BTD (Biotinidase)
Y16Y (p.Tyr16Tyr) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Y16Y (p.Tyr16Tyr) variant details
- p.Tyr16Tyr
- rs201823743
- gnomAD 3-15635487-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 3.98
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available