G62G (p.Gly62Gly) variant of CPS1 (P31327)
G62G (p.Gly62Gly) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G62G (p.Gly62Gly) variant details
- p.Gly62Gly
- rs529836556
- gnomAD 2-210573357-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 10.10
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Literature evidence available