A41A (p.Ala41Ala) variant of BTD (Biotinidase)
A41A (p.Ala41Ala) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A41A (p.Ala41Ala) variant details
- p.Ala41Ala
- rs747945967
- gnomAD 3-15635562-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0832
- CADD 0.36
- Population evidence available
- Structural context available
- Literature evidence available