H23Y (p.His23Tyr) variant of BTD (Biotinidase)
H23Y (p.His23Tyr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H23Y (p.His23Tyr) variant details
- p.His23Tyr
- ESP rs374156287
- ExAC rs374156287
- TOPMed rs374156287
- gnomAD rs374156287
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.34
- CADD 3.88
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available