E36K (p.Glu36Lys) variant of BTD (Biotinidase)
E36K (p.Glu36Lys) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- ExAC rs778509548
- gnomAD rs778509548
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.31
- CADD 13.60
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available