A41T (p.Ala41Thr) variant of BTD (Biotinidase)
A41T (p.Ala41Thr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- gnomAD 3-15635560-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.85
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available