A9G (p.Ala9Gly) variant of BTD (Biotinidase)
A9G (p.Ala9Gly) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- gnomAD 3-15635465-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.24
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available