A35A (p.Ala35Ala) variant of BTD (Biotinidase)
A35A (p.Ala35Ala) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A35A (p.Ala35Ala) variant details
- p.Ala35Ala
- rs756829942
- gnomAD 3-15635544-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0949
- CADD 2.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available