V18V (p.Val18Val) variant of BTD (Biotinidase)
V18V (p.Val18Val) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V18V (p.Val18Val) variant details
- p.Val18Val
- rs1482104070
- gnomAD 3-15635433-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 8.39
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available