V42V (p.Val42Val) variant of BTD (Biotinidase)
V42V (p.Val42Val) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V42V (p.Val42Val) variant details
- p.Val42Val
- rs927037987
- gnomAD 3-15635565-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 4.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available