H33H (p.His33His) variant of BTD (Biotinidase)
H33H (p.His33His) 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.
H33H (p.His33His) variant details
- p.His33His
- rs397514337
- gnomAD 3-15635538-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0894
- CADD 1.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. (PMID 15776412)