H23H (p.His23His) variant of BTD (Biotinidase)
H23H (p.His23His) 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.
H23H (p.His23His) variant details
- p.His23His
- rs374044613
- gnomAD 3-15601865-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.27
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Literature evidence available