E27E (p.Glu27Glu) variant of BTD (Biotinidase)
E27E (p.Glu27Glu) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs530566306
- gnomAD 3-15635520-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.083
- CADD 0.34
- Population evidence available
- Structural context available
- Literature evidence available