K28K (p.Lys28Lys) variant of CPS1 (P31327)
K28K (p.Lys28Lys) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
K28K (p.Lys28Lys) variant details
- p.Lys28Lys
- rs574128765
- gnomAD 2-210556817-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.87
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available