A19E (p.Ala19Glu) variant of BTD (Biotinidase)
A19E (p.Ala19Glu) 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.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 3-15631492-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available