H23D (p.His23Asp) variant of BTD (Biotinidase)
H23D (p.His23Asp) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H23D (p.His23Asp) variant details
- p.His23Asp
- rs1254275322
- gnomAD 3-15601857-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.11
- CADD 12.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available