L8L (p.Leu8Leu) variant of BTD (Biotinidase)
L8L (p.Leu8Leu) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- rs148276195
- gnomAD 3-15631469-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 3.03
- Population evidence available
- Structural context available
- Literature evidence available