K57K (p.Lys57Lys) variant of CPS1 (P31327)
K57K (p.Lys57Lys) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K57K (p.Lys57Lys) variant details
- p.Lys57Lys
- gnomAD 2-210573342-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 9.49
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available