E34E (p.Glu34Glu) variant of BTD (Biotinidase)
E34E (p.Glu34Glu) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E34E (p.Glu34Glu) variant details
- p.Glu34Glu
- gnomAD 3-15635541-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 3.53
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available