Y43M (p.Tyr43Met) variant of BTD (Biotinidase)
Y43M (p.Tyr43Met) in BTD (Biotinidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Y43M (p.Tyr43Met) variant details
- p.Tyr43Met
- gnomAD 3-15635564-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available