R5G (p.Arg5Gly) variant of BTD (Biotinidase)
R5G (p.Arg5Gly) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs1454831418
- gnomAD 3-15601878-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.27
- CADD 13.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available