E26G (p.Glu26Gly) variant of BTD (Biotinidase)
E26G (p.Glu26Gly) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- gnomAD 3-15635516-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.23
- CADD 16.60
- PolyPhen-2 0.08
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available