G58G (p.Gly58Gly) variant of CPS1 (P31327)
G58G (p.Gly58Gly) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G58G (p.Gly58Gly) variant details
- p.Gly58Gly
- rs1574540146
- gnomAD 2-210573345-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available