E51E (p.Glu51Glu) variant of CPS1 (P31327)
E51E (p.Glu51Glu) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E51E (p.Glu51Glu) variant details
- p.Glu51Glu
- rs1231201792
- gnomAD 2-210573324-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available