G53G (p.Gly53Gly) variant of CPS1 (P31327)
G53G (p.Gly53Gly) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G53G (p.Gly53Gly) variant details
- p.Gly53Gly
- gnomAD 2-210573330-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available