P46P (p.Pro46Pro) variant of BTD (Biotinidase)
P46P (p.Pro46Pro) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P46P (p.Pro46Pro) variant details
- p.Pro46Pro
- rs1159185297
- gnomAD 3-15635577-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0865
- CADD 0.83
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available