S47Y (p.Ser47Tyr) variant of BTD (Biotinidase)
S47Y (p.Ser47Tyr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S47Y (p.Ser47Tyr) variant details
- p.Ser47Tyr
- gnomAD 3-15635579-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.41
- CADD 14.60
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available