Q27E (p.Gln27Glu) variant of CPS1 (P31327)
Q27E (p.Gln27Glu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q27E (p.Gln27Glu) variant details
- p.Gln27Glu
- rs1230411824
- gnomAD 2-210556722-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 2.69
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available