H33del (p.His33del) variant of BTD (Biotinidase)
H33del (p.His33del) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H33del (p.His33del) variant details
- gnomAD 3-15635532-CCAT-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available