G69G (p.Gly69Gly) variant of CPS1 (P31327)
G69G (p.Gly69Gly) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G69G (p.Gly69Gly) variant details
- p.Gly69Gly
- gnomAD 2-210573378-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 13.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available