Y16C (p.Tyr16Cys) variant of BTD (Biotinidase)
Y16C (p.Tyr16Cys) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- ExAC rs778597438
- gnomAD rs778597438
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.52
- CADD 2.83
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available