E27Q (p.Glu27Gln) variant of BTD (Biotinidase)
E27Q (p.Glu27Gln) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- gnomAD 3-15635518-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.29
- CADD 4.04
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available