K7E (p.Lys7Glu) variant of BTD (Biotinidase)
K7E (p.Lys7Glu) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- ExAC rs781152718
- gnomAD rs781152718
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.26
- CADD 14.10
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available