H32H (p.His32His) variant of BTD (Biotinidase)
H32H (p.His32His) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
H32H (p.His32His) variant details
- p.His32His
- gnomAD 3-15635535-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0962
- CADD 2.20
- Population evidence available
- Structural context available
- Literature evidence available