Y59Y (p.Tyr59Tyr) variant of CPS1 (P31327)
Y59Y (p.Tyr59Tyr) in CPS1 (P31327) is a synonymous 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.
Y59Y (p.Tyr59Tyr) variant details
- p.Tyr59Tyr
- rs1390730716
- gnomAD 2-210573348-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 7.86
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available