G3D (p.Gly3Asp) variant of BTD (Biotinidase)
G3D (p.Gly3Asp) 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.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- rs138473616
- gnomAD 3-15601873-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.30
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available