L10V (p.Leu10Val) variant of BTD (Biotinidase)
L10V (p.Leu10Val) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- ExAC rs752626624
- TOPMed rs752626624
- gnomAD rs752626624
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.18
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available