L12S (p.Leu12Ser) variant of BTD (Biotinidase)
L12S (p.Leu12Ser) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- gnomAD 3-15631489-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.17
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available