V39V (p.Val39Val) variant of BTD (Biotinidase)
V39V (p.Val39Val) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V39V (p.Val39Val) variant details
- p.Val39Val
- gnomAD 3-15635556-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 4.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available