R5H (p.Arg5His) variant of BTD (Biotinidase)
R5H (p.Arg5His) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 3-15601882-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.27
- CADD 8.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available