Y37C (p.Tyr37Cys) variant of BTD (Biotinidase)
Y37C (p.Tyr37Cys) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Y37C (p.Tyr37Cys) variant details
- p.Tyr37Cys
- gnomAD 3-15635549-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.33
- CADD 5.00
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available