A40G (p.Ala40Gly) variant of BTD (Biotinidase)
A40G (p.Ala40Gly) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- gnomAD 3-15635558-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.74
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available