V42G (p.Val42Gly) variant of BTD (Biotinidase)
V42G (p.Val42Gly) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V42G (p.Val42Gly) variant details
- p.Val42Gly
- gnomAD 3-15635564-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.91
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available