A9T (p.Ala9Thr) variant of BTD (Biotinidase)
A9T (p.Ala9Thr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD 3-15601884-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.14
- CADD 6.88
- Population evidence available
- Structural context available
- Literature evidence available