A4D (p.Ala4Asp) variant of BTD (Biotinidase)
A4D (p.Ala4Asp) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 3-15631450-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 5.80
- Population evidence available
- Structural context available
- Literature evidence available