L12L (p.Leu12Leu) variant of BTD (Biotinidase)
L12L (p.Leu12Leu) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs755603849
- gnomAD 3-15635475-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 6.67
- Population evidence available
- Structural context available
- Literature evidence available