Y38Y (p.Tyr38Tyr) variant of BTD (Biotinidase)
Y38Y (p.Tyr38Tyr) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Y38Y (p.Tyr38Tyr) variant details
- p.Tyr38Tyr
- rs2125453888
- gnomAD 3-15635553-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 2.50
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available