V17V (p.Val17Val) variant of BTD (Biotinidase)
V17V (p.Val17Val) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V17V (p.Val17Val) variant details
- p.Val17Val
- rs1036133088
- gnomAD 3-15635490-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 8.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available