H23Q (p.His23Gln) variant of BTD (Biotinidase)
H23Q (p.His23Gln) 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.
H23Q (p.His23Gln) variant details
- p.His23Gln
- gnomAD 3-15635508-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.28
- CADD 6.79
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available