L51V (p.Leu51Val) variant of BTD (Biotinidase)
L51V (p.Leu51Val) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD 3-15635590-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.20
- CADD 9.29
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available