L49L (p.Leu49Leu) variant of BTD (Biotinidase)
L49L (p.Leu49Leu) 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.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs777344863
- gnomAD 3-15635584-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0826
- CADD 0.28
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available