L20L (p.Leu20Leu) variant of BTD (Biotinidase)
L20L (p.Leu20Leu) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- rs1243398055
- gnomAD 3-15635499-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 9.09
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available