L49V (p.Leu49Val) variant of BTD (Biotinidase)
L49V (p.Leu49Val) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- ExAC rs777344863
- TOPMed rs777344863
- gnomAD rs777344863
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.40
- CADD 9.83
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available