L51L (p.Leu51Leu) variant of BTD (Biotinidase)
L51L (p.Leu51Leu) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- gnomAD 3-15635592-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0804
- CADD 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available