E26E (p.Glu26Glu) variant of BTD (Biotinidase)
E26E (p.Glu26Glu) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E26E (p.Glu26Glu) variant details
- p.Glu26Glu
- rs759354648
- gnomAD 3-15635517-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 3.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available