A4A (p.Ala4Ala) variant of BTD (Biotinidase)
A4A (p.Ala4Ala) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- gnomAD 3-15601856-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available