E72E (p.Glu72Glu) variant of OTC (P00480)
E72E (p.Glu72Glu) in OTC (P00480) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E72E (p.Glu72Glu) variant details
- p.Glu72Glu
- rs987967261
- gnomAD X-38367429-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 19.70
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available